homocystinuria

Summary

Summary: An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Top Publications

  1. pmc Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene
    Miroslav Janosik
    Institute of Inherited Metabolic Disorders, Charles University in Prague 1st Faculty of Medicine, Prague, Czech Republic
    J Pediatr 154:431-7. 2009
  2. ncbi Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
    S Sibani
    Department of Pediatrics, McGill University Health Centre, Montreal, Canada
    Hum Mutat 15:280-7. 2000
  3. pmc The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
    Katerina Homolova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague 2, Czech Republic
    Hum Mutat 31:437-44. 2010
  4. ncbi Oxidative stress and platelet activation in homozygous homocystinuria
    G Davi
    Center of Excellence on Aging, Department of Biomedical Sciences, University of Chieti G D Annunzio, Chieti, Italy
    Circulation 104:1124-8. 2001
  5. ncbi Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria
    Kazutaka Ikeda
    Department of Metabolome, Graduate School of Medicine, The University of Tokyo, Tokyo, 113 0033, Japan
    Anal Bioanal Chem 400:1853-63. 2011
  6. pmc Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
    James D Weisfeld-Adams
    Program for Inherited Metabolic Diseases, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 99:116-23. 2010
  7. pmc Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:103-14. 2012
  8. ncbi Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects
    Norlin J Benevenga
    Department of Animal Sciences and Nutritional Sciences, University of Wisconsin Madison, Madison, WI, USA
    Am J Clin Nutr 85:946-9. 2007
  9. ncbi Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency
    A K Topaloglu
    Department of Human Genetics, Mount Sinai Medical Center, New York, New York 10029, USA
    Pediatr Res 49:796-8. 2001
  10. ncbi Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency
    J S Lim
    Pediatrics, Korea Cancer Center Hospital, Seoul, South Korea
    Osteoporos Int 24:2535-8. 2013

Research Grants

Detail Information

Publications192 found, 100 shown here

  1. pmc Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene
    Miroslav Janosik
    Institute of Inherited Metabolic Disorders, Charles University in Prague 1st Faculty of Medicine, Prague, Czech Republic
    J Pediatr 154:431-7. 2009
    ..To estimate the frequency of the cystathionine beta-synthase deficiency caused by c.1105C>T mutation in Central Europe compared to Norway, and to examine the pathogenicity of the corresponding p.R369C mutant enzyme...
  2. ncbi Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
    S Sibani
    Department of Pediatrics, McGill University Health Centre, Montreal, Canada
    Hum Mutat 15:280-7. 2000
    ..Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems...
  3. pmc The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
    Katerina Homolova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague 2, Czech Republic
    Hum Mutat 31:437-44. 2010
    ..903+469T>C, is the most frequent mutation causing the cblE type of homocystinuria. It is well known to be associated with pre-mRNA mis-splicing, resulting in pseudoexon inclusion; however, the ..
  4. ncbi Oxidative stress and platelet activation in homozygous homocystinuria
    G Davi
    Center of Excellence on Aging, Department of Biomedical Sciences, University of Chieti G D Annunzio, Chieti, Italy
    Circulation 104:1124-8. 2001
    ....
  5. ncbi Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria
    Kazutaka Ikeda
    Department of Metabolome, Graduate School of Medicine, The University of Tokyo, Tokyo, 113 0033, Japan
    Anal Bioanal Chem 400:1853-63. 2011
    Fatty liver is one of the typical manifestations in homocysteinemia/homocystinuria patients and their genetic animal model, mice lacking cystathionine β-synthase (Cbs(-/-))...
  6. pmc Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
    James D Weisfeld-Adams
    Program for Inherited Metabolic Diseases, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 99:116-23. 2010
    Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC...
  7. pmc Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:103-14. 2012
    Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism...
  8. ncbi Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects
    Norlin J Benevenga
    Department of Animal Sciences and Nutritional Sciences, University of Wisconsin Madison, Madison, WI, USA
    Am J Clin Nutr 85:946-9. 2007
    A major focus in attempts to ameliorate homocystinuria and neural tube defects is supplementation of the diet with B vitamins. The metabolic defect in these cases may be due in part to a deficiency of methyl groups...
  9. ncbi Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency
    A K Topaloglu
    Department of Human Genetics, Mount Sinai Medical Center, New York, New York 10029, USA
    Pediatr Res 49:796-8. 2001
    ..effect of metabolic control and the role of the GH-IGF system on growth were investigated in 10 patients with homocystinuria. There was a direct correlation between the plasma free homocyst(e)ine and growth velocity SD scores in 18 ..
  10. ncbi Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency
    J S Lim
    Pediatrics, Korea Cancer Center Hospital, Seoul, South Korea
    Osteoporos Int 24:2535-8. 2013
    b>Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an inherited disorder of the metabolism of methionine...
  11. ncbi [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]
    R Lefaucheur
    Service de Neurologie, CHU de Rouen, Rouen Cedex, France
    Rev Neurol (Paris) 164:728-32. 2008
    Iridodonesis or tremulous iris is a clinical sign of ectopia lentis which is frequently associated with homocystinuria. We present a forty-two-year-old woman victim of a left middle cerebral artery ischemic stroke...
  12. ncbi Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects
    Eva Richard
    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular Severo Ochoa CSIC UAM, Departamento de Biología Molecular Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, IdiPAZ, Madrid, Spain
    J Cell Biochem 114:183-91. 2013
    ..with several disorders of cobalamin metabolism, particularly with methylmalonic aciduria (MMA) combined with homocystinuria cblC type...
  13. ncbi Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function
    David E L Wilcken
    University of New South Wales, Sydney, Australia
    J Inherit Metab Dis 29:30-7. 2006
    ..We investigated whether ADMA levels are elevated in CBS patients with and without renal impairment, and whether lowering plasma homocysteine also lowers ADMA...
  14. pmc Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:91-102. 2012
    Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin ..
  15. ncbi Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening
    Andi Dwi Bahagia Febriani
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan
    Pediatr Int 46:5-9. 2004
    The most widely used method for newborn screening for homocystinuria (HCU) is a semi-quantitative bacterial inhibition assay for measuring methionine concentration in dried blood spots (DBS)...
  16. ncbi High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
    Laurie E Profitlich
    Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA
    Mol Genet Metab 98:344-8. 2009
    ..the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid ..
  17. pmc Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
    M Janosik
    Institute of Inherited Metabolic Disease, Charles University First Faculty of Medicine, Prague, Czech Republic
    Am J Hum Genet 68:1506-13. 2001
    ..The clinical manifestation was typical of homocystinuria, and about half of the 21 patients were not responsive to pyridoxine...
  18. ncbi The contribution of low plasma taurine to clinical complications of Homocystinurea
    B Mafrici
    Med Hypotheses 65:203-4. 2005
  19. ncbi cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
    Petra Zavadakova
    Institute of Inherited Metabolic Diseases, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    Hum Mutat 25:239-47. 2005
    The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase...
  20. pmc Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria
    Bernd C Schwahn
    Department of Paediatrics, Medical Faculty, Heinrich Heine University, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Br J Clin Pharmacol 55:6-13. 2003
    ..We studied the pharmacokinetics of betaine and its metabolite dimethylglycine (DMG) in healthy subjects and in three patients with homocystinuria.
  21. pmc A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment
    Kenneth N Maclean
    Departments of Pediatrics and Medicine, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Mol Genet Metab 101:153-62. 2010
    ..Inactivation of CBS results in CBS-deficient homocystinuria more commonly referred to as classical homocystinuria, which, if untreated, results in mental retardation, ..
  22. ncbi Creatine metabolism in combined methylmalonic aciduria and homocystinuria
    Olaf A Bodamer
    Unit of Biochemical Genetics, Department of Pediatrics, University of Vienna Children s Hospital, Vienna, Austria
    Ann Neurol 57:557-60. 2005
    ..8 +/- 20.7 micromol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of ..
  23. ncbi Assessment of visual function in children with methylmalonic aciduria and homocystinuria
    D Ricci
    Child Neurology and Psychiatry Unit, Catholic University, Rome, Italy
    Neuropediatrics 36:181-5. 2005
    ..of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria. All patients had an ophthalmological examination and were tested with a battery of age-appropriate tests ..
  24. pmc Functional rescue of mutant human cystathionine beta-synthase by manipulation of Hsp26 and Hsp70 levels in Saccharomyces cerevisiae
    Laishram R Singh
    Division of Population Science, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    J Biol Chem 284:4238-45. 2009
    ..Based on these results we propose a novel model in which the ratio of Hsp70 and Hsp26 determines whether misfolded proteins will either be refolded or degraded...
  25. ncbi Structural insights into mutations of cystathionine beta-synthase
    Markus Meier
    M E Müller Institute for Structural Biology, Biozentrum, University of Basel, Klingelbergstrasse 70, CH 4056, Basel, Switzerland
    Biochim Biophys Acta 1647:206-13. 2003
    ..Deficiency of CBS leads to homocystinuria, an inherited disease of sulfur amino acid metabolism characterised by increased levels of homocysteine and ..
  26. ncbi The use of betaine in the treatment of elevated homocysteine
    Amy Lawson-Yuen
    Division of Genetics, Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA
    Mol Genet Metab 88:201-7. 2006
    Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease...
  27. ncbi Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type
    Christina Gerth
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
    J AAPOS 12:591-6. 2008
    To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene.
  28. ncbi Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards
    Hongying Gan-Schreier
    Department of Pediatrics, Ruprecht Karls University, Heidelberg, Germany
    J Pediatr 156:427-32. 2010
    ..To allow early recognition of cystathionine beta-synthase by newborn screening...
  29. pmc Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Petr Vyletal
    Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 28:255-64. 2007
    ..T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. However, the frequency of the pathogenic c...
  30. pmc A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency
    Flemming Skovby
    Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Mol Genet Metab 99:1-3. 2010
    ..that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p...
  31. ncbi Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
    J Sokolova
    Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    Hum Mutat 18:548-9. 2001
    Recent reports suggested that homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a more common inborn error of metabolism than originally thought...
  32. ncbi Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations
    Edith Wilson Miles
    NIDDK, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
    J Biol Chem 279:29871-4. 2004
  33. ncbi Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype
    W D Kruger
    Division of Population Science, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Hum Mutat 22:434-41. 2003
    ..CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. Patients not treated in infancy have multi-systems disorders including dislocated lenses, mental deficiency, ..
  34. ncbi Upregulation of smooth muscle cell collagen production by homocysteine-insight into the pathogenesis of homocystinuria
    Alana K Majors
    Department of Human Genetics, MCP Hahnemann School of Medicine, Pittsburgh, PA 15212, USA
    Mol Genet Metab 76:92-9. 2002
    Patients with untreated homocystinuria have widespread premature atherosclerosis with intimal thickening and collagen-rich, fibrous plaques...
  35. ncbi Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
    Nat Genet 38:93-100. 2006
    Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases...
  36. pmc Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model
    Liqun Wang
    Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA
    Hum Mol Genet 14:2201-8. 2005
    ..These transgenic animals should be useful in the study of homocysteine related human disease...
  37. ncbi Homocystinuria: a rare cause of megaloblastic anemia
    Sunil Gomber
    Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India
    Indian Pediatr 41:941-3. 2004
    ..The child had a positive sodium nitroprusside test and homocystinuria. He was diagnosed to have homocystinuria type 1. His anemia improved on oral pyridoxine and folic acid therapy...
  38. ncbi Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria
    Sarah Hutchinson
    Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    J Mol Biol 346:833-44. 2005
    b>Homocystinuria is an inborn error of methionine metabolism that results in raised serum levels of the highly reactive thiol-containing amino acid homocysteine...
  39. ncbi Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
    Sandra G Heil
    Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 30:811. 2007
    ..Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria. Recently, the gene responsible for the CblC type, MMACHC, was identified, which enables molecular diagnostics...
  40. ncbi S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase
    Scott A Christopher
    Division of Population Science, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia, PA 19111, USA
    Mol Genet Metab 75:335-43. 2002
    ..We hypothesize that elevated extracellular homocysteine present in humans may reflect an altered intracellular SAM/SAH ratio and that this may be related to disease pathogenesis...
  41. ncbi 844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world
    Avshalom Zoossmann-Diskin
    Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia
    Anthropol Anz 62:147-55. 2004
    ..Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled...
  42. ncbi Birth prevalence of homocystinuria
    Helga Refsum
    Department of Pharmacology, University of Oxford, United Kingdom
    J Pediatr 144:830-2. 2004
    Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples...
  43. ncbi The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment
    Mette Gaustadnes
    Cardiovascular Genetics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia
    Hum Mutat 20:117-26. 2002
    Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, ..
  44. ncbi Blood spot homocysteine: a feasibility and stability study
    Ann Bowron
    Department of Clinical Biochemistry, Bristol Royal Infirmary, Bristol BS2 8HW, UK
    Clin Chem 51:257-8. 2005
  45. ncbi Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy
    M Orendác
    Institute of Inherited Metabolic Diseases, Department of Pediatrics, Charles University First Faculty of Medicine, Ke Karlovu 2, 128 08 Prague 2, Czech Republic
    J Inherit Metab Dis 26:761-73. 2003
    ..We propose that the finding of low plasma serine concentration in untreated CBS-deficient patients merits further exploration since supplementation with serine might be a novel and safe component of treatment of homocystinuria.
  46. ncbi The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria
    Stuart J Moat
    Cardiovascular Sciences Research Group, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mutat 23:206. 2004
    ..The spectrum of mutations observed in the patients from the UK and US is closer to that which is observed in Northern Europe and bears less resemblance to that observed in Ireland...
  47. ncbi CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
    M A Vilaseca
    Hospital Sant Joan de Deu, Barcelona, Spain
    J Inherit Metab Dis 26:361-9. 2003
    Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental delay and cerebral atrophy...
  48. ncbi Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase
    Suvajit Sen
    Biochemistry Department, University of Nebraska, Lincoln, Nebraska 68588 0664, USA
    Biochemistry 44:14210-6. 2005
    ..in the intracellular disposal of homocysteine and is the single most common locus of mutations associated with homocystinuria. Elevated levels of homocysteine are correlated with heart disease, Alzheimer's and Parkinson's diseases, and ..
  49. ncbi Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response
    X Chen
    Division of Population Science, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Hum Mutat 27:474-82. 2006
    ..These mice have extremely elevated plasma homocysteine levels and do not respond significantly to large doses of pyridoxine. Our findings suggest that there may be multiple mechanisms involved in response to pyridoxine...
  50. ncbi Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
    ..Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene...
  51. ncbi Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
    Celia Nogueira
    Genetics Medical Center, INSA, Oporto, Portugal
    Mol Genet Metab 93:475-80. 2008
    Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations...
  52. ncbi Gene identification for the cblD defect of vitamin B12 metabolism
    David Coelho
    Metabolic Unit, University Children s Hospital, Basel, Switzerland
    N Engl J Med 358:1454-64. 2008
    ..One of these defects, the cblD defect, can cause isolated methylmalonic aciduria, isolated homocystinuria, or both...
  53. pmc Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient
    L A Kluijtmans
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Clin Invest 98:285-9. 1996
    ..the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient. Direct sequencing of the entire CBS cDNA revealed the presence of a homozygous G1330A transition...
  54. ncbi Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis
    X Shan
    Division of Population Science, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Hum Mol Genet 10:635-43. 2001
    ..Mutations in CBS are known to cause homocystinuria, an inborn error in metabolism...
  55. ncbi Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations
    M P Sperandeo
    Department of Pediatrics, Federico II University, Naples, Italy
    J Inherit Metab Dis 19:351-6. 1996
    ..These observations could explain the conflicting results reported for vascular pathologies in parents of homocystinuric patients and direct the search for genetic mutations in these vascular pathologies...
  56. ncbi Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria
    P A Dawson
    Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    Eur J Hum Genet 5:15-21. 1997
    b>Homocystinuria, due to a deficiency of the enzyme cystathionine beta-synthase (CBS), is an inborn error of sulphur-amino acid metabolism...
  57. ncbi Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria
    C E Kim
    Division of Population Science, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Hum Mol Genet 6:2213-21. 1997
    ..These studies show that the G797A mutation is an important cause of pyridoxine-responsive CBS deficiency and demonstrate the utility of yeast functional assays in the analysis of human mutations...
  58. ncbi Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria
    D S Froese
    Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alta, Canada
    Mol Genet Metab 98:338-43. 2009
    ..are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria...
  59. ncbi Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype
    R de Franchis
    Department of Pediatrics, University of Colorado School of Medicine, Denver, USA
    Hum Mutat 13:453-7. 1999
    b>Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is frequently caused by missense mutations...
  60. ncbi Cystathionine beta-synthase mutations in homocystinuria
    J P Kraus
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262, USA
    Hum Mutat 13:362-75. 1999
    The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS)...
  61. pmc Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
    D Leclerc
    Medical Research Council Group in Medical Genetics, The Montreal Children s Hospital, McGill University Health Centre, Montreal, PQ, Canada H3Z 2Z3
    Proc Natl Acad Sci U S A 95:3059-64. 1998
    ..The cloning of the cDNA will permit the diagnostic characterization of cblE patients and investigation of the potential role of polymorphisms of this enzyme as a risk factor in hyperhomocysteinemia-linked vascular disease...
  62. ncbi Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online
    R B Gordon
    Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane 4102, Australia
    Hum Mutat 11:332. 1998
    ..in the cystathionine beta-synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations...
  63. ncbi A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene
    W D Kruger
    Department of Genetics, Stanford University, School of Medicine, CA 94305, USA
    Hum Mol Genet 4:1155-61. 1995
    Mutations in the human cystathionine beta-synthase (CBS) gene are known to cause homocystinuria and may also be a significant risk factor for premature atherosclerosis...
  64. ncbi Correction of disease-causing CBS mutations in yeast
    X Shan
    Division of Population Sciences, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Nat Genet 19:91-3. 1998
    Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma...
  65. ncbi Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency
    V Kozich
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262
    Hum Mutat 1:113-23. 1992
    Deficiency of cystathionine beta-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals...
  66. ncbi Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria
    F L Hu
    Neurology Service, Massachusetts General Hospital, Boston 02129
    Hum Mol Genet 2:1857-60. 1993
    ..All patients have pyridoxine nonresponsive homocystinuria. We have now observed this mutation in 9 of 52 apparently unrelated alleles of varied ethnic backgrounds...
  67. ncbi Homocystinuria with transverse sinus thrombosis
    S Buoni
    Institute of Clinical Pediatrics, University of Siena, Italy
    J Child Neurol 16:688-90. 2001
    A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed...
  68. ncbi High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application
    M Linnebank
    Klinik und Poliklinik für Kinderheilkunde, Westfällische Wilhelms Universität Münster, Germany
    Thromb Haemost 85:986-8. 2001
    Classical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease...
  69. pmc The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
    G Sebastio
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Hum Genet 56:1324-33. 1995
    Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid ..
  70. ncbi DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients
    Sandra G Heil
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Mol Genet Metab 91:55-60. 2007
    ..is an inborn error of metabolism that is biochemically characterized by severe hyperhomocysteinemia and homocystinuria. In tissues of mice deficient for CBS it has been demonstrated that global DNA methylation and DNA methylation ..
  71. ncbi Komrower Lecture. Molecular basis of phenotype expression in homocystinuria
    J P Kraus
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262
    J Inherit Metab Dis 17:383-90. 1994
    Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria in humans. The human gene maps to chromosome 21q22.3 and encodes the CBS subunit of 551 amino acid residues (63kDa)...
  72. ncbi Molecular defect in a patient with pyridoxine-responsive homocystinuria
    V Kozich
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262
    Hum Mol Genet 2:815-6. 1993
  73. ncbi Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12
    M Linnebank
    Universitaet Muenster, , Germany
    Hum Mutat 17:350-1. 2001
    b>Homocystinuria is most frequently due to deficiency of cystathionine beta-synthase (CBS). We identified IVS12 as a polymorphism hot spot of the human CBS gene and report five novel single nucleotide polymorphisms (SNPs): g.13514G>A, g...
  74. pmc A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype
    V E Shih
    Neurology Service, Massachusetts General Hospital, Boston 02129, USA
    Am J Hum Genet 57:34-9. 1995
    Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease...
  75. ncbi Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria
    Sook Jin Lee
    Division of Genetic Disease, Department of Biomedical Sciences, National Institute of Health, Seoul, South Korea
    J Hum Genet 50:648-54. 2005
    b>Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene...
  76. ncbi Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system
    R de Franchis
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262
    Hum Mol Genet 3:1103-8. 1994
    ..molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria...
  77. ncbi Classical homocystinuria: vascular risk and its prevention
    S Yap
    National Center for Inherited Metabolic Disorders, The Children s University Hospital, Temple Street, Dublin 1, Ireland
    J Inherit Metab Dis 26:259-65. 2003
    b>Homocystinuria due to cystathionine beta-synthase deficiency is the second most treatable aminoacidopathy. The reported incidence varies from 1 in 344,000 worldwide to 1 in 65,000 in Ireland...
  78. ncbi Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria
    M Marble
    Department of Pediatrics, Johns Hopkins University School, Baltimore, MD 21205
    Hum Mol Genet 3:1883-6. 1994
    We used SSCP to survey reverse transcribed-PCR amplified cystathionine synthase cDNAs from patients with homocystinuria. In a single CBS allele, we identified one synonymous and two missense mutations in a portion of the cDNA encoded by a ..
  79. ncbi Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency
    Ewoud Vorstman
    Dev Med Child Neurol 44:498. 2002
  80. ncbi Practical management of combined methylmalonicaciduria and homocystinuria
    Debra L Smith
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    J Child Neurol 17:353-6. 2002
    Combined methylmalonicaciduria and homocystinuria is a disorder of intracellular cobalamin metabolism that remains a challenge to the physician unfamiliar with the diagnosis...
  81. ncbi Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings
    A Rossi
    Department of Pediatric Neuroradiology, G. Gaslini Children's Research Hospital, Genoa, Italy
    AJNR Am J Neuroradiol 22:554-63. 2001
    BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-..
  82. ncbi Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype
    A B Guttormsen
    LOCUS for Homocysteine and Related Vitamins, University of Bergen, Armauer Hansens Hus, Bergen, Norway
    Am J Med Genet 100:204-13. 2001
    ..Abnormal tHcy response after methionine loading was the most sensitive test. Our data suggest that the urinary tHcy excretion rate is a simple, non-invasive approach for studying mild disturbances in Hcy metabolism...
  83. ncbi CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families
    P Zavadakova
    Institute of Inherited Metabolic Diseases, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
    J Inherit Metab Dis 25:461-76. 2002
    The cblE type of homocystinuria is a rare autosomal recessive disorder, which manifests with megaloblastic anaemia and developmental delay in early childhood...
  84. ncbi From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset
    Rosa Maria Cerbo
    Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    J Child Neurol 25:368-70. 2010
    b>Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine...
  85. ncbi Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria
    Lisa Bishop
    Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
    J Child Neurol 23:823-8. 2008
    ..an autosomal recessive metabolic disorder of folate metabolism causing elevated plasma homocysteine levels and homocystinuria (MIM 236250)...
  86. ncbi [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
    Yasushi Enokido
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Brain Nerve 59:731-7. 2007
    ..A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, seizures, ..
  87. ncbi Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
    Mahmoud F Elsaid
    Department of Pediatrics Neurology Unit, Hamad General Hospital, Hamad Medical Corporation, Qatar, and Department of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, The University of Manchester, UK
    Mol Genet Metab 92:100-3. 2007
    ..Comparative cross-sectional study to assess homocysteine and vitamin status in carriers of CBS gene mutations...
  88. ncbi Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy
    R C Longhi
    Pediatr Res 11:100-3. 1977
    ..PLP completely prevented heat inactivation of enzyme from normal liver...
  89. ncbi Molecular analysis of homocystinuria in Brazilian patients
    Marianna P R Porto
    Department of Pediatrics, Universidade Federal de São Paulo UNIFESP EPM Brazil
    Clin Chim Acta 362:71-8. 2005
    Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations.
  90. ncbi Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver
    Julien Hamelet
    EA 3508, Universite Paris Diderot Paris 7, Paris, France
    Biochim Biophys Acta 1782:482-8. 2008
    ..These findings demonstrate that cystathionine beta synthase deficiency initiates redox disequilibrium in the liver. However, the activation of catalase attenuates oxidative impairments...
  91. ncbi Homocysteine and endothelial function in human studies
    Stuart J Moat
    Department of Medical Biochemistry and Immunology, Wales College of Medicine, Cardiff University and the University Hospital of Wales, Cardiff, United Kingdom
    Semin Vasc Med 5:172-82. 2005
    ..Patients with homocystinuria manifest with impaired FMD, but in mild hyperhomocysteinemia, the evidence is conflicting...
  92. ncbi [Risk factors for cardiovascular diseases: what is the role for homocysteine?]
    Maria Grazia Bendini
    U O di Cardiologia, Ospedale S Maria della Stella, Orvieto, TR
    G Ital Cardiol (Rome) 8:148-60. 2007
    ....
  93. ncbi Liver failure and neurologic disease in a patient with homocystinuria
    Selma E Snyderman
    Department of Human Genetics, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1497, New York, NY 10029, USA
    Mol Genet Metab 87:210-2. 2006
    ..This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions...
  94. ncbi The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase
    Kleopatra H Schulpis
    Inborn Errors of Metabolism Department, Institute of Child Health Research Center, Aghia Sophia Children s Hospital, Athens, Greece
    Metab Brain Dis 21:21-8. 2006
    b>Homocystinuria is due to enzymatic deficiencies resulting in elevated blood levels of homocysteine (Hcy), homocystine (Hci), and/or methionine (Met) and the clinical presentation of mental retardation, seizures, and cardiovascular disease...
  95. ncbi [Untreated homocystinuria in adulthood]
    P Benzinger
    Robert Bosch Krankenhaus, Zentrum fur Innere Medizin, Abteilung für Allgemeine Innere Medizin und Nephrologie, Stuttgart
    Dtsch Med Wochenschr 130:2439-43. 2005
    ..He did not know of any thrombembolic events in the past. On physical examination Marfan-like appearance and a funnel chest were noted. Because of these findings Marfan syndrome was suspected...
  96. ncbi Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice
    Julien Hamelet
    EA 3508, Universite Paris 7 Denis Diderot, Case 7104, 2 place Jussieu, 75251 Paris Cedex 05, France
    J Hepatol 46:151-9. 2007
    ..To gain further insights into effects of CBS deficiency on hepatic cholesterol metabolism, the expression of hepatic genes involved in biosynthesis, uptake and efflux was determined in CBS-deficient mice...
  97. ncbi Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature
    T K A B Eskes
    University Medical Center St Radboud, 6500 HB Nijmegen NL, Netherlands
    Eur J Obstet Gynecol Reprod Biol 124:130-3. 2006
    ..This finding, in addition to the prevention of neural tube defects, strengthens the recommendation to use folic acid around conception...
  98. ncbi Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS
    Yasushi Enokido
    Department of Molecular Geneticsy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    FASEB J 19:1854-6. 2005
    ..2.1.22) is a key enzyme in the generation of cysteine from methionine. A deficiency of CBS leads to homocystinuria, an inherited human disease characterized by mental retardation, seizures, psychiatric disturbances, skeletal ..
  99. ncbi Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
    Eun Sook Park
    Brain Korea 21 Project for Medical Science, Yonsei University, Seoul 120 752, Korea
    Exp Mol Med 38:652-61. 2006
    b>Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine beta-synthase (CBS)...
  100. ncbi Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?
    Jonathan D Picker
    Department of Genetics, Harvard Medical School McLean Hospital, Belmont, MA, USA
    Harv Rev Psychiatry 13:197-205. 2005
    ....
  101. ncbi Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway
    Jean Marc Alberto
    INSERM U724, Faculte de Medecine, Vandoeuvre les Nancy, France
    Mol Genet Metab 91:396-8. 2007
    ..We showed that CBS deficiency in mice reduced hepatic methionine synthase and betaine-homocysteine methyltransferase activities, whereas 5,10-methylene tetrahydrofolate reductase activity was increased...

Research Grants29

  1. MRDD Research Center
    KARL PFENNINGER; Fiscal Year: 2009
    ..including glutaric acidemic types I and II that were discovered at this Center, propronic academia, and homocystinuria. The second area of strength is in exploring the genes responsible for single and multigene disorders: autism, ..
  2. Phase 1/2 of Taurine in Cystathionine Beta-Synthase Deficient Homocystinuria
    Johan L Van Hove; Fiscal Year: 2013
    Cystathionine beta-synthase deficient homocystinuria (CBSDH) is an inherited disorder that is clinically silent at birth but with significant morbidity and mortality over time even with the best therapeutic intervention...
  3. Homocysteine &Heme: A Role in Thrombosis?
    Jan P Kraus; Fiscal Year: 2012
    ..A defect in the CBS protein in humans is the most common cause of homocystinuria, an inherited metabolic disease characterized by elevated levels of homocysteine and decreased levels of ..
  4. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    MARK STEEN; Fiscal Year: 2001
    ..Because carriers for homocystinuria caused by these enzyme deficiencies have half the normal gene dosage of either CBS or MS, they are expected to ..
  5. NEW AMINO ACID DISORDERS IN CEREBRAL DISEASE
    Vivian Shih; Fiscal Year: 1999
    ..In homocystinuria (HCS) due to cystathionine beta-synthase deficiency, DNA mutations and genetic heterogeneity will be ..
  6. INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLS
    Leon Rosenberg; Fiscal Year: 1990
    ..significant inborn errors of metabolism involving four enzymes of amino acid and organic acid metabolism: homocystinuria, due to cystathionine beta-synthase (CS) deficiency; methylmalonic acidemia, due to methylmalonyl CoA mutase ..
  7. Homocysteine's role in the causation of presbyopia
    CHARLES PRINCE; Fiscal Year: 2002
    ..homocysteine is the major biochemical feature of cystathionine beta-synthase deficiency (also known as homocystinuria) with total plasma levels usually exceeding 100microM (normal total plasma levels do not exceed 100microM...
  8. HOMOCYSTEINE MODIFIES BONE MATRIX AND MINERALIZATION
    CHARLES PRINCE; Fiscal Year: 2007
    ..We emphasized the parallels between the hallmark manifestations of homocystinuria (with serum homocysteine concentrations typically >100 (m/L), ie, occlusive vascular disease, osteoporosis, ..
  9. EXPRESSION OF CYSTATHIONINE SYNTHASE AND HUMAN DISEASE
    JAN KRAUS; Fiscal Year: 1993
    ..of expression of the--cystathionine 8-synthase (CBS) gene may play a role in three human disease states: homocystinuria; peripheral and cerebral occlusive arterial disease; and Down syndrome...
  10. METHOD FOR NEONATAL SCREENING FOR HOMOCYSTINURIA
    JAMES ROZZELL; Fiscal Year: 1999
    The ability to detect both L-homocysteine and L-methionine is critical for accurate screening for homocystinuria. This research project, if successful, will result in a selective, quantitative assay for L-homocysteine and L- methionine in ..
  11. MECHANISTIC STUDY OF B12-DEPENDENT METHIONINE SYNTHASE
    Vahe Bandarian; Fiscal Year: 2001
    ..Patients with mutations in the MetH gene display severe neurological dysfunction, megaloblastic anemia, homocystinuria, or hypomethioninemia. MetH is one of two B12 dependent enzymes that have been identified in mammals...
  12. HOMOCYSTEINEMIA
    David Kang; Fiscal Year: 1992
    Classical homocystinuria due to enzyme defects in methionine or folate metabolism causes a 30 to 60 fold increase of plasma total homocysteine...
  13. 2009 Vitamin B12 and Corphins Gordon Conference
    CATHERINE DRENNAN; Fiscal Year: 2009
    ..Conditions such as methylmalonic aciduria and homocystinuria are inborn errors of vitamin B12 metabolism...
  14. HOMOCYSTEINE AND ENDOTHELIAL CELL DYSFUNCTION
    KATHERINE HAJJAR; Fiscal Year: 2000
    ..It accumulates in plasma and intracellularly in the inborn error of metabolism, homocystinuria, and in homocyst(e)inemia of either inherited or acquired etiology...
  15. METHOD FOR NEONATAL SCREENING FOR HOMOCYSTINURIA
    JAMES ROZZELL; Fiscal Year: 2002
    ..down to concentrations of 10-20 micromolar, well below the range of 50-500 micromolar that is indicative of homocystinuria. The feasibility of a test strip for homocysteine detection was demonstrated using an immobilized form of the ..
  16. CBS GENE IN HOMOCYSTINURIA AND ARTERIOSCLEROSIS
    JAN KRAUS; Fiscal Year: 2000
    ..to determine the mechanisms of altered gene expression of the cystathionine b-synthase (CBS) gene in classical Homocystinuria (related to the Parent Grant) and also in patients with coronary/peripheral arterial disease (Homocysteine ..
  17. STUDIES OF PLATELET KINETICS IN MAN USING INDIUM-III
    Min Fu Tsan; Fiscal Year: 1980
    ..We will begin our studies using indium-111 platelets in human disease with a reassessment of the role of the spleen in idiopathic (immune) thrombocytopenic purpura and of platelet kinetics in patients with homocystinuria.
  18. GENERAL CLINICAL RESEARCH CENTER
    NORMAN NELSON; Fiscal Year: 1990
    ..for facility: The Effect of Betaine on Cognitive Function, Behavior, Platelets and Amino Acid Patterns in Homocystinuria. Determination of Renal Iodide Clearance as a Function of Chloride Clearance in the Salt Deplete and the Salt ..
  19. The Unfolding of Marfan Syndrome
    ALANA MAJORS; Fiscal Year: 2006
    ..We will also examine the extracellular matrix at the ultrastructural level and will assess the role of ER stress in MFS. [unreadable] [unreadable]..
  20. FASEB Summer Conference: Folate, B12 and 1C Metabolism
    JAMES FINKELSTEIN; Fiscal Year: 2002
    ..The format encourages discussions between the presenters and the fellows, residents and junior investigators in attendance. Similarly, the poster sessions also highlight the activities and the needs of the younger participants. ..
  21. COX-2 and PPARgamma: Targets for BRCA Prevention
    Warren Kruger; Fiscal Year: 2007
    ....
  22. PROSTAGLANDINS AND COLON ADENOMAS
    Henry Lin; Fiscal Year: 2002
    ..The proposed study should improve understanding of the mechanism of prevention by NSAIDs and may lead to new targets for chemopreventive agents. ..
  23. Computer Decision Aid for ADHD Management (CDAAM)
    Aaron E Carroll; Fiscal Year: 2010
    ..We will assess the quality of ADHD services at baseline and again at 12 months post implementation. These methods will allow a thorough description of the intervention's role in the process of ADHD management. ..
  24. Effect of Hepatotoxins & Adomet on Liver Gene Expression
    Warren Kruger; Fiscal Year: 2003
    ..This work may also be useful in the identification of biological pathways affected in chronic liver disease that are not affected by AdoMet supplementation, which may represent other correctable targets in chronic liver disease. ..
  25. GENETIC MODULATION OF CBS TO LOWER PLASMA HOMOCYSTEINE
    Warren Kruger; Fiscal Year: 2009
    ..cerevisiae. In our third aim, we will develop a mouse model to study pyridoxine-responsive homocystinuria. This will be done by making a transgenic mouse expressing the R266K mutant form of CBS and crossing this ..
  26. Prostaglandin D and skin cancer prevention
    Henry Lin; Fiscal Year: 2008
    ..Niacin as a booster of PGD2 may emerge as an agent to be studied for chemoprevention of skin cancer. [unreadable] [unreadable] [unreadable]..
  27. Mobile Tool for Adolescent Diabetes Management
    Aaron Carroll; Fiscal Year: 2008
    ..This research request will form the foundation of an R01 proposal to rigorously study the tool's impact on adolescent diabetes management ..
  28. REGULATION OF FOLATE METABOLISM
    ROWENA MATTHEWS; Fiscal Year: 2008
    ..We predict that phosphorylation will play an important role in modulating the flux of one-carbon units. ..
  29. 14th International Congress on Flavins and Flavoproteins
    ROWENA MATTHEWS; Fiscal Year: 2002
    ..Tea will be served at each poster session. Presentations were selected by an International Organizing Committee with an eye to a diverse representation of speakers at the meeting. ..