methylmalonic acid

Summary

Summary: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.

Top Publications

  1. ncbi Functional vitamin B12 deficiency and determination of holotranscobalamin in populations at risk
    Wolfgang Herrmann
    Department of Clinical Chemistry, School of Medicine, Saarland University, Homburg, Germany
    Clin Chem Lab Med 41:1478-88. 2003
  2. ncbi Methylmalonic and propionic acidaemias: management and outcome
    H Ogier de Baulny
    Hopital Robert Debre, Paris, France
    J Inherit Metab Dis 28:415-23. 2005
  3. pmc Association of metformin, elevated homocysteine, and methylmalonic acid levels and clinically worsened diabetic peripheral neuropathy
    Daryl J Wile
    Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Diabetes Care 33:156-61. 2010
  4. pmc Biomarkers of cobalamin (vitamin B-12) status in the epidemiologic setting: a critical overview of context, applications, and performance characteristics of cobalamin, methylmalonic acid, and holotranscobalamin II
    Ralph Carmel
    Department of Medicine, New York Methodist Hospital, Brooklyn, NY 11215, USA
    Am J Clin Nutr 94:348S-358S. 2011
  5. ncbi Circulating unmetabolized folic acid and 5-methyltetrahydrofolate in relation to anemia, macrocytosis, and cognitive test performance in American seniors
    Martha Savaria Morris
    Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA
    Am J Clin Nutr 91:1733-44. 2010
  6. ncbi Serum cobalamin, homocysteine, and methylmalonic acid concentrations in a multiethnic elderly population: ethnic and sex differences in cobalamin and metabolite abnormalities
    R Carmel
    Department of Medicine, New York Methodist Hospital, Brooklyn, NY, USA
    Am J Clin Nutr 70:904-10. 1999
  7. ncbi The use of blood concentrations of vitamins and their respective functional indicators to define folate and vitamin B12 status
    Jacob Selhub
    Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA
    Food Nutr Bull 29:S67-73. 2008
  8. pmc Biomarkers of vitamin B-12 status in NHANES: a roundtable summary
    Elizabeth A Yetley
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892 7517, USA
    Am J Clin Nutr 94:313S-321S. 2011
  9. ncbi Long-term outcome in methylmalonic aciduria: a series of 30 French patients
    M A Cosson
    Metabolic Center, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    Mol Genet Metab 97:172-8. 2009
  10. ncbi Levodopa, methylmalonic acid, and neuropathy in idiopathic Parkinson disease
    Cory Toth
    Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, 3330 Hospital Drive NW, Calgary, Alberta, Canada
    Ann Neurol 68:28-36. 2010

Research Grants

Detail Information

Publications274 found, 100 shown here

  1. ncbi Functional vitamin B12 deficiency and determination of holotranscobalamin in populations at risk
    Wolfgang Herrmann
    Department of Clinical Chemistry, School of Medicine, Saarland University, Homburg, Germany
    Clin Chem Lab Med 41:1478-88. 2003
    ..In this study we investigated the diagnostic value of storage (holoTC) of vitamin B12 and functional markers (methylmalonic acid (MMA)) of vitamin B12 metabolism in populations who are at risk of vitamin B12 deficiency.
  2. ncbi Methylmalonic and propionic acidaemias: management and outcome
    H Ogier de Baulny
    Hopital Robert Debre, Paris, France
    J Inherit Metab Dis 28:415-23. 2005
    ..These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy...
  3. pmc Association of metformin, elevated homocysteine, and methylmalonic acid levels and clinically worsened diabetic peripheral neuropathy
    Daryl J Wile
    Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Diabetes Care 33:156-61. 2010
    ..is associated with malabsorption of vitamin B(12) (cobalamin [Cbl]) and elevated homocysteine (Hcy) and methylmalonic acid (MMA) levels, which may have deleterious effects on peripheral nerves...
  4. pmc Biomarkers of cobalamin (vitamin B-12) status in the epidemiologic setting: a critical overview of context, applications, and performance characteristics of cobalamin, methylmalonic acid, and holotranscobalamin II
    Ralph Carmel
    Department of Medicine, New York Methodist Hospital, Brooklyn, NY 11215, USA
    Am J Clin Nutr 94:348S-358S. 2011
    ..gold standard limits the ability to weigh the performance characteristics of metabolic biomarkers such as methylmalonic acid (MMA) and holotranscobalamin II, whose specificities remain incompletely defined outside their relations to ..
  5. ncbi Circulating unmetabolized folic acid and 5-methyltetrahydrofolate in relation to anemia, macrocytosis, and cognitive test performance in American seniors
    Martha Savaria Morris
    Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA
    Am J Clin Nutr 91:1733-44. 2010
    ..However, clinical consequences of vitamin B-12 deficiency may be worsened by high folic acid intakes, perhaps as a direct result of unmetabolized folic acid, which does not occur naturally in body tissues...
  6. ncbi Serum cobalamin, homocysteine, and methylmalonic acid concentrations in a multiethnic elderly population: ethnic and sex differences in cobalamin and metabolite abnormalities
    R Carmel
    Department of Medicine, New York Methodist Hospital, Brooklyn, NY, USA
    Am J Clin Nutr 70:904-10. 1999
    ..Low cobalamin concentrations and mild hyperhomocysteinemia are common in the elderly but ethnic differences have not been defined...
  7. ncbi The use of blood concentrations of vitamins and their respective functional indicators to define folate and vitamin B12 status
    Jacob Selhub
    Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA
    Food Nutr Bull 29:S67-73. 2008
    ..For serum vitamin B12, the cutoff would be 150 pmol/L based on lowest methylmalonic acid and 300 pmol/L based on lowest homocysteine.
  8. pmc Biomarkers of vitamin B-12 status in NHANES: a roundtable summary
    Elizabeth A Yetley
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892 7517, USA
    Am J Clin Nutr 94:313S-321S. 2011
    ..The roundtable reviewed 3 biomarkers of vitamin B-12 status used in past NHANES--serum vitamin B-12, methylmalonic acid (MMA), and total homocysteine (tHcy)--and discussed the potential utility of measuring holotranscobalamin (..
  9. ncbi Long-term outcome in methylmalonic aciduria: a series of 30 French patients
    M A Cosson
    Metabolic Center, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    Mol Genet Metab 97:172-8. 2009
    ..To better delineate the natural history of patients with methylmalonic aciduria (MMA)...
  10. ncbi Levodopa, methylmalonic acid, and neuropathy in idiopathic Parkinson disease
    Cory Toth
    Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, 3330 Hospital Drive NW, Calgary, Alberta, Canada
    Ann Neurol 68:28-36. 2010
    ..We sought to examine the prevalence of PN in a population of IPD patients and a potential relationship to levodopa use and fasting methylmalonic acid (MMA) levels.
  11. ncbi Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
    Jürgen G Okun
    Department of Pediatrics, Division of Metabolic and Endocrine Diseases, Im Neuenheimer Feld 150, Federal Republic of Germany
    J Biol Chem 277:14674-80. 2002
    ..We propose that neuropathogenesis of methylmalonic aciduria may involve an inhibition of complex II and the tricarboxylic acid cycle by accumulating toxic organic acids, and synergistic secondary excitotoxic mechanisms...
  12. ncbi Prevalence of cobalamin deficiency in the Framingham elderly population
    J Lindenbaum
    Department of Medicine, Columbia Presbyterian Medical Center, New York, NY 10032
    Am J Clin Nutr 60:2-11. 1994
    ..5%) compared with 17.9% of younger control subjects (P < 0.001). Serum methylmalonic acid and total homocysteine concentrations were markedly elevated in association with cobalamin values < 258 ..
  13. ncbi 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
    Carlo Dionisi-Vici
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:383-9. 2006
    ..This paper describes the long-term outcome and the impact of expanded newborn screening on the so-called 'classical' organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria)...
  14. ncbi Analysis of dicarboxylic acids by tandem mass spectrometry. High-throughput quantitative measurement of methylmalonic acid in serum, plasma, and urine
    M M Kushnir
    ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Clin Chem 47:1993-2002. 2001
    b>Methylmalonic acid (MMA) is a dicarboxylic acid whose concentration can be increased in blood and urine in patients with an inborn error of metabolism or vitamin B(12) deficiency...
  15. ncbi Elevated serum methylmalonic acid concentrations are common among elderly Americans
    Martha Savaria Morris
    Jean Mayer U S Department of Agriculture Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA
    J Nutr 132:2799-803. 2002
    To describe serum methylmalonic acid (MMA) concentrations of elderly Americans and examine relationships between serum MMA and other factors, we used surplus serum samples collected from elderly (n = 1145) and young-adult (n = 1026) ..
  16. ncbi Cobalamin-responsive disorders in the ambulatory care setting: unreliability of cobalamin, methylmalonic acid, and homocysteine testing
    Lawrence R Solomon
    Department of Medicine, Yale University Health Services, 17 Hillhouse Ave, P O Box 208237, New Haven, CT 06520 8237, USA
    Blood 105:978-85; author reply 1137. 2005
    ..However, diagnostic algorithms using Cbl, methylmalonic acid (MMA), and homocysteine (HCys) measurements reflect studies in academic centers, and their negative ..
  17. ncbi Increased plasma methylmalonic acid level does not predict clinical manifestations of vitamin B12 deficiency
    A M Hvas
    Department of Hematology, Aarhus University Hospital, Aarhus Amtssygehus, Tage Hansens Gade 2, 8000 Aarhus C, Denmark
    Arch Intern Med 161:1534-41. 2001
    The prevalence of vitamin B(12) deficiency, defined as an elevated concentration of plasma methylmalonic acid (P-MMA), has been estimated to be 15% to 44% in the elderly...
  18. pmc Folate and vitamin B-12 biomarkers in NHANES: history of their measurement and use
    Elizabeth A Yetley
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Clin Nutr 94:322S-331S. 2011
    ..measured additional biomarkers [eg, red blood cell folate, serum vitamin B-12, total homocysteine (tHcy), methylmalonic acid, serum folic acid, and 5-methyltetrahydrofolic acid]...
  19. pmc Overview of a roundtable on NHANES monitoring of biomarkers of folate and vitamin B-12 status: measurement procedure issues
    Elizabeth A Yetley
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892 7517, USA
    Am J Clin Nutr 94:297S-302S. 2011
    ..The use of serum vitamin B-12 and plasma methylmalonic acid would provide continuity with past NHANES...
  20. pmc Biochemical indicators of vitamin B12 and folate insufficiency and cognitive decline
    Christine C Tangney
    Department of Clinical Nutrition, Rush University Medical Center, Chicago, IL 60612, USA
    Neurology 72:361-7. 2009
    ..associations of serum vitamin B(12) and homocysteine concentrations with cognitive decline have been reported but few have examined the role of methylmalonic acid, a more specific marker of vitamin B(12) deficiency than homocysteine.
  21. ncbi Vitamin B12, folate, homocysteine and urinary methylmalonic acid levels in infants
    F Karademir
    Department of Paediatrics, GATA Haydarpasa Teaching Hospital, Uskudar, Istanbul, Turkey
    J Int Med Res 35:384-8. 2007
    ..77; 15) than at birth (11.97; 10.88), and was not correlated with vitamin B12 levels. Homocysteine may be a reliable marker of vitamin B12 status in neonates and infants; however, uMMA is not suitable as a marker of vitamin B12 status...
  22. ncbi Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
    M A Cosson
    Metabolic Unit, Reference Center, Necker Enfants Malades Hospital, University Paris Descartes, 149 rue de Sevres, 75009 Paris, France
    Mol Genet Metab 95:107-9. 2008
    ..Mitochondrial dysfunction and/or post-transplant immunosuppressive therapy should be considered as a possible cause of liver cancer in this patient...
  23. ncbi Homocysteine and methylmalonic acid levels in pregnant Nepali women. Should cobalamin supplementation be considered?
    G T Bondevik
    Centre for International Health, University of Bergen, Bergen, Norway
    Eur J Clin Nutr 55:856-64. 2001
    The aim of this study was to investigate homocysteine and methylmalonic acid levels as markers of functional cobalamin and folate status in pregnant Nepali women.
  24. ncbi Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture
    G Touati
    Centre de Référence des Maladies Héréditaires du Métabolisme, AP HP Hôpital Necker Enfants Malades, AP HP, Universite Rene Descartes, Paris, France
    J Inherit Metab Dis 29:288-98. 2006
    ..Albumin, vitamins, trace elements and markers of bone metabolism were within the normal values. IGF1, 24-hour urine calcium and body mass density were low. Body composition showed a normal to low lean mass and a normal to high fat mass...
  25. ncbi Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain
    Stefan Kölker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    J Biol Chem 278:47388-93. 2003
    Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites...
  26. ncbi Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescence
    Anne Lise Bjørke Monsen
    Department of Pediatrics, University of Bergen, Norway
    Am J Clin Nutr 78:7-21. 2003
    ..total homocysteine (tHcy) in serum and plasma is elevated in both folate and cobalamin deficiencies, whereas methylmalonic acid (MMA) in serum, plasma, or urine is a specific marker of cobalamin function...
  27. ncbi Association of cognitive impairment with combinations of vitamin B₁₂-related parameters
    Dorte L Lildballe
    Department of Clinical Biochemistry, Aarhus University Hospital, DK 8000 Aarhus, Denmark
    Clin Chem 57:1436-43. 2011
    ..The associations of cognitive impairment with combinations of vitamin B₁₂, holotranscobalamin, methylmalonic acid, and total homocysteine, and with the vitamin B₁₂ transport proteins transcobalamin and haptocorrin, ..
  28. ncbi Diagnostic accuracy of holotranscobalamin, methylmalonic acid, serum cobalamin, and other indicators of tissue vitamin B₁₂ status in the elderly
    Edward Valente
    Axis Shield Diagnostics, Dundee, UK
    Clin Chem 57:856-63. 2011
    ..Vitamin B₁₂ deficiency is common among the elderly, and early detection is clinically important. However, clinical signs and symptoms have limited diagnostic accuracy and there is no accepted reference test method...
  29. ncbi Renal impairment compromises the use of total homocysteine and methylmalonic acid but not total vitamin B12 and holotranscobalamin in screening for vitamin B12 deficiency in the aged
    Saila Loikas
    Department of Clinical Chemistry, Turku University Central Hospital, Turku, Finland
    Clin Chem Lab Med 45:197-201. 2007
    ..Renal impairment has been associated with increased concentrations of plasma total homocysteine and methylmalonic acid, as well as increased total vitamin B(12) and holotranscobalamin concentrations.
  30. ncbi Racial differences in prevalence of cobalamin and folate deficiencies in disabled elderly women
    S P Stabler
    Division of Hematology, Department of Medicine, University of Colorado Health Sciences Center, Denver, CO, USA
    Am J Clin Nutr 70:911-9. 1999
    ..Many previous investigations of cobalamin and folate status were performed in white populations...
  31. ncbi Metabolic signs of vitamin B(12) deficiency in humans: computational model and its implications for diagnostics
    Sergey N Fedosov
    Protein Chemistry Laboratory, Department of Molecular Biology, University of Aarhus, Science Park, DK 8000 Aarhus C, Denmark
    Metabolism 59:1124-38. 2010
    ..Cbl-saturated transporter holo-transcobalamin (holoTC), and substrates of Cbl-dependent enzymatic reactions methylmalonic acid (MMA) and homocysteine (Hcy)...
  32. ncbi Daily intake of 4 to 7 microg dietary vitamin B-12 is associated with steady concentrations of vitamin B-12-related biomarkers in a healthy young population
    Mustafa Vakur Bor
    Department of Clinical Biochemistry, AS Aarhus University Hospital, Aarhus, Denmark
    Am J Clin Nutr 91:571-7. 2010
    ..Studies have questioned whether the current Recommended Dietary Allowance (RDA) of 2.4 microg vitamin B-12/d is adequate...
  33. ncbi Longitudinal study of the effect of pregnancy on maternal and fetal cobalamin status in healthy women and their offspring
    Michelle M Murphy
    Unitat de Medicina Preventiva i Salut Pública, IRCIS, Facultat de Medicina i Ciencies de la Salut, Universitat Rovira i Virgili, Reus, 43201 Spain
    J Nutr 137:1863-7. 2007
    ..Plasma cobalamin, methylmalonic acid (MMA), and holotranscobalamin (holoTC) concentrations were determined in 92 women at preconception, 8, 20, ..
  34. ncbi Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians
    H Refsum
    Department of Pharmacology and the Locus for Homocysteine and Related Vitamins, University of Bergen, Norway
    Am J Clin Nutr 74:233-41. 2001
    ..In India, most people adhere to a vegetarian diet, which may lead to cobalamin deficiency...
  35. pmc Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
    Randy J Chandler
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 89:64-73. 2006
    ..against mmcm-1, mmab-1, mmaa-1 in the presence of propionic acid revealed a chemical phenotype of increased methylmalonic acid; deletion mutants of mmcm-1, mmab-1 and mce-1 displayed reduced 1-[(14)C]-propionate incorporation into ..
  36. ncbi Holotranscobalamin in laboratory diagnosis of cobalamin deficiency compared to total cobalamin and methylmalonic acid
    Rima Obeid
    Department of Clinical Chemistry and Laboratory Medicine, Faculty of Medicine, University Hospital of Saarland, Homburg Saar, Germany
    Clin Chem Lab Med 45:1746-50. 2007
    ..Serum concentration of holoTC is a new marker in laboratory diagnosis of cobalamin deficiency. We tested the utility of holoTC in assessing vitamin B(12) status...
  37. ncbi Quantification of methylmalonic acid in human plasma with hydrophilic interaction liquid chromatography separation and mass spectrometric detection
    Hans Ake Lakso
    Department of Clinical Pharmacology, University of Umea, Umea, Sweden
    Clin Chem 54:2028-35. 2008
    Measurement of methylmalonic acid (MMA) in serum or plasma is useful for diagnosing cobalamin deficiency...
  38. ncbi A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
    Heidi Peters
    Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    J Biol Chem 278:52909-13. 2003
    ..This is the first mouse model that recapitulates the key phenotypic features of mut0 methylmalonic aciduria...
  39. ncbi Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 56:1686-95. 2010
    ..More specific markers are total homocysteine (tHCY), methylmalonic acid (MMA), and methylcitric acid (MCA), but these markers are not detected by current NBS methods...
  40. ncbi Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
    Paige Kaplan
    Section of Metabolism, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Mol Genet Metab 88:322-6. 2006
    ..Liver replacement is not a cure for methylmalonic acidopathy...
  41. ncbi Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations
    Thomas J Lempp
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital Zurich, Switzerland
    Mol Genet Metab 90:284-90. 2007
    ..1097A>G/p.N366S; c.2081G>T/p.R694L) among 13 probands with a mut(-) defect. Our study provides evidence that the p.Y100C, p.R108H, p.N366S, p.V633G, p.R694W, p.R694L and p.M700K mutations are associated with a mut(-) phenotype...
  42. ncbi Analysis of methylmalonic acid in plasma by liquid chromatography-tandem mass spectrometry
    Anne Schmedes
    Department of Clinical Biochemistry, Vejle County Hospital, Kabbeltoft 25, Vejle, DK 7100, Denmark
    Clin Chem 52:754-7. 2006
    b>Methylmalonic acid (MMA) is a biochemical marker for cobalamin deficiency, particularly in cases where the cobalamin concentration is moderately decreased or in the low-normal range...
  43. ncbi A population-based intervention study on elevated serum levels of methylmalonic acid and total homocysteine in elderly people: results after 36 months of follow-up
    K Bjorkegren
    Department of Public Health and Caring Sciences, Family Medicine and Clinical Epidemiology Section, University Hospital, Uppsala University, Uppsala, Sweden
    J Intern Med 256:446-52. 2004
    ..To study the effects of vitamin B12 and folic acid treatment on haematological measures, reported symptoms and clinical findings over a 3-year period...
  44. ncbi Methylmalonic acid in amniotic fluid and maternal urine as a marker for neural tube defects
    Xiaoping Luo
    Department of Pediatrics, Tongji Hospital, Center for the Diagnosis of Genetic Metabolic Diseases, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
    J Huazhong Univ Sci Technolog Med Sci 24:166-9. 2004
    ..MMA is a specific and sensitive marker for intracellular vitamin B12 deficiency. This study suggests that it is necessary to monitor the vitamin B12 deficiency and advocates vitamin B12 supplementation with folate prevention program...
  45. ncbi Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
    D Coman
    Department of Metabolic Medicine, The Royal Children s Hospital, Brisbane, Australia
    Pediatr Nephrol 21:270-3. 2006
    ..This patient highlights the importance of testing for the inborn errors of metabolism in patients presenting with recurrent acidosis and progressive renal impairment...
  46. pmc Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature
    Peter J Mc Guire
    Department of Pediatrics, Mt Sinai Medical Center, One Gustave L Levy Place, New York, NY 10021, USA
    Mol Genet Metab 93:22-9. 2008
    ..Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed...
  47. ncbi Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia
    Osamu Sakamoto
    Department of Pediatrics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, 980 8574, Japan
    J Hum Genet 52:48-55. 2007
    ..This finding - that a limited number of mutations account for most of the mutations in Japanese mut MMA patients - is in contrast with results of a previous study in Caucasian patients...
  48. ncbi Cobalamin status (holo-transcobalamin, methylmalonic acid) and folate as determinants of homocysteine concentration
    Rima Obeid
    Department of Clinical Chemistry, University Hospital of Saarland, 66421 Homburg, Germany
    Clin Chem 48:2064-5. 2002
  49. ncbi Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women
    Patricia R Barbosa
    Department of Clinical Chemistry and Toxicology, School of Pharmaceutical Sciences, University of Sao Paulo, Brazil
    Clin Chim Acta 388:139-47. 2008
    ..We investigated the nutritional and genetic determinants for total homocysteine (tHcy), methylmalonic acid (MMA) and SAM/SAH in healthy Brazilian childbearing-age women.
  50. ncbi Total blood mercury, plasma homocysteine, methylmalonic acid and folate in US children aged 3-5 years, NHANES 1999-2004
    Carolyn M Gallagher
    Stony Brook University, School of Medicine, Health Sciences Center Level 3, Stony Brook, NY 11794 8338, USA
    Sci Total Environ 409:1399-405. 2011
    ..The relationships between mercury, homocysteine, B-12, and folate have not been examined in children...
  51. ncbi Delay of renal progression in methylmalonic acidemia using angiotensin II inhibition: a case report
    Tae Sun Ha
    Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Chungbuk Korea
    J Nephrol 21:793-6. 2008
    ..Management frequently includes a low-protein diet to minimize precursors of methylmalonic acid and reduce its concentration in body tissues...
  52. pmc Monitoring of vitamin B-12 nutritional status in the United States by using plasma methylmalonic acid and serum vitamin B-12
    Regan L Bailey
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892 7517, USA
    Am J Clin Nutr 94:552-61. 2011
    ....
  53. ncbi Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Brain 130:853-61. 2007
    We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency ..
  54. ncbi Challenges in the identification of cobalamin-deficiency polyneuropathy
    David S Saperstein
    Department of Neurology, University of Kansas Medical Center, Kansas City 66160, USA
    Arch Neurol 60:1296-301. 2003
    ..Diagnosing cobalamin (Cbl) deficiency as a cause of polyneuropathy (PN) is problematic, as the frequency of both disorders increases with age, and serum Cbl levels can be difficult to interpret...
  55. ncbi Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease
    A Brassier
    Centre de référence des maladies héréditaires du métabolisme de l enfant et de l adulte MaMEA, Hopital Necker Enfants Malades, Universite Paris Descartes, Institut Imagine, France
    Mol Genet Metab 110:106-10. 2013
    ..A kidney transplant may partially correct the metabolic dysfunctions. Liver, kidney and combined liver-kidney transplantations have been advocated but no guidelines are available to identify the most suitable organ to transplant...
  56. ncbi Cobalamin deficiency-induced down-regulation of p75-immunoreactive cell levels in rat central nervous system
    Elena Mutti
    Institute of General Pathology, University of Milan, Via Mangiagalli 31, 20133 Milano, Italy
    Brain Res 1157:92-9. 2007
    ....
  57. ncbi Determinants of urinary methylmalonic acid concentration in an elderly population in the United Kingdom
    Janet E Flatley
    Human Nutrition Unit, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom
    Am J Clin Nutr 95:686-93. 2012
    ..Urinary methylmalonic acid (MMA) may be a more informative biomarker of vitamin B-12 status; however, biochemical, dietary, and other ..
  58. pmc Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
    C Melissa Dobson
    Department of Biochemistry and Molecular Biology, University of Calgary, AB, Canada T2N 1N4
    Proc Natl Acad Sci U S A 99:15554-9. 2002
    ..We speculate that we have identified a component of a transporter or an accessory protein that is involved in the translocation of vitamin B(12) into mitochondria...
  59. ncbi Three novel and six common mutations in 11 patients with methylmalonic acidemia
    Azusa Kobayashi
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Pediatr Int 48:1-4. 2006
    ..Although most are private mutations, only three (E117X, G717V, and N219Y) are reportedly common in Japanese, Black, and Caucasian populations, respectively. Here we identified mutations in 11 Japanese patients with MCM deficiency...
  60. ncbi Urinary methylmalonic acid test may have greater value than the total homocysteine assay for screening elderly individuals for cobalamin deficiency
    Eric J Norman
    Clin Chem 50:1482-3. 2004
  61. ncbi Long-term effects of folic acid fortification and B-vitamin supplementation on total folate, homocysteine, methylmalonic acid and cobalamin in older adults
    Angeles A Garcia
    Department of Medicine, Queen s University, Kingston, ON
    Can J Public Health 99:428-33. 2008
    ..folic acid fortification program in older adults' whole blood cell folate (folate) and cobalamin (Cbl) status, including homocysteine (tHcy) and methylmalonic acid (MMA), with and without voluntary B-vitamin intake, from 1997 to 2004.
  62. ncbi Altered red cell membrane compositions related to functional vitamin B(12) deficiency manifested by elevated urine methylmalonic acid concentrations in patients with schizophrenia
    Omer Ozcan
    Department of Biochemistry, GATA Haydarpasa Training Hospital, 81327 Uskudar, Istanbul, Turkey
    Ann Clin Biochem 45:44-9. 2008
    ..We aimed to investigate the relationship between cobalamin state and cell membrane composition in patients with schizophrenia...
  63. ncbi Response of homocysteine, cystathionine, and methylmalonic acid to vitamin treatment in dialysis patients
    Rima Obeid
    Department of Clinical Chemistry, Central Laboratory, Saarland University Hospital, 66421 Homburg, Germany
    Clin Chem 51:196-201. 2005
    ..Vitamin treatment lowers total homocysteine (tHcy) concentrations in plasma and may therefore reduce the associated risk. Current treatment strategies have not achieved normalization of tHcy in the majority of dialysis patients...
  64. ncbi Homocysteine, cystathionine, methylmalonic acid and B-vitamins in patients with renal disease
    W Herrmann
    Department of Clinical Chemistry Central Laboratory, Universitatskliniken des Saarlandes, Homburg, Germany
    Clin Chem Lab Med 39:739-46. 2001
    ..Aside from homocysteine (HCY) itself, the metabolites methylmalonic acid (MMA) and cystathionine (CYS) supply further information about disturbances in HCY metabolism...
  65. ncbi Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates: involvement of mitochondrial glutamate metabolism
    Daniela R Melo
    Departamento de Patologia Clinica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, Sao Paulo, Brazil
    J Neurosci Res 90:1190-9. 2012
    ..Taken together, these findings indicate that the inhibitory effect of MMA on mitochondrial oxidative metabolism can be ascribed to concurrent inhibition of specific enzymes and lower availability of respiratory substrates...
  66. ncbi [Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria]
    Per Magne Ueland
    Farmakologisk seksjon, Institutt for indremedisin, Universitetet i Bergen, 5021 Bergen
    Tidsskr Nor Laegeforen 128:690-3. 2008
    ..An elevated concentration of methylmalonic acid in plasma/serum is an indicator of cobalamin deficiency, whereas an increased concentration of total ..
  67. ncbi Effect of multivitamin supplementation on the homocysteine and methylmalonic acid blood concentrations in women over the age of 60 years
    Maike Wolters
    Nutrition Physiology and Human Nutrition Unit, Institute of Food Science Centre of Applied Chemistry University of Hanover, Wunstorfer Str 14, 30453, Hannover, Germany
    Eur J Nutr 44:183-92. 2005
    ..Studies have shown that supplementation of the three vitamins can lower tHcy even in subjects with tHcy in the normal range...
  68. ncbi Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds
    Sabina Lutz
    Clinic for Small Animal Internal Medicine, University of Zurich, Zurich, Switzerland
    Am J Vet Res 73:1194-9. 2012
    To determine reference ranges for serum cobalamin (Cbl), urine methylmalonic acid (uMMA), and plasma total homocysteine (tHcys) concentrations and to compare values for healthy control dogs with values for Border Collies (BCs), a breed in ..
  69. ncbi Methylmalonic acid--an endogenous toxin?
    S Kolker
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120, Heidelberg, Germany
    Cell Mol Life Sci 62:621-4. 2005
    b>Methylmalonic acid was previously considered as major neurotoxin in methylmalonic acidurias...
  70. ncbi Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia
    Daniela R Melo
    Departamento de Patologia Clinica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brazil
    J Bioenerg Biomembr 43:39-46. 2011
    ..energy metabolism occurring in methylmalonic acidemia, focusing mainly on the effects of accumulated methylmalonic acid, and gives an overview of the results found in different experimental models...
  71. ncbi The marker of cobalamin deficiency, plasma methylmalonic acid, correlates to plasma creatinine
    A M Hvas
    Department of Haematology, Aas, Aarhus University Hospital, Aarhus, Denmark
    J Intern Med 247:507-12. 2000
    To examine the relationship between the two diagnostic tests, plasma methylmalonic acid and plasma cobalamins, and their association with plasma creatinine, age and sex.
  72. ncbi Relationship between methylmalonic acid and cobalamin in uremia
    L Moelby
    Department of Nephro ogy, Aalborg Hospital, Aalborg, Germany
    Kidney Int 57:265-73. 2000
    Relationship between methylmalonic acid and cobalamin in uremia.
  73. ncbi Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid
    A M Brusque
    Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, UFRGS, Rua Ramiro Barcelos 2600, CEP 90 035 003 Porto Alegre, RS, Brazil
    Neurochem Int 40:593-601. 2002
    ....
  74. ncbi Elevated serum levels of methylmalonic acid and homocysteine in elderly people. A population-based intervention study
    K Bjorkegren
    Uppsala University, Department of Public Health and Caring Sciences, Family Medicine Section, University Hospital, Sweden
    J Intern Med 246:317-24. 1999
    ..In this report we present the results of systematic cobalamin and folic acid treatment based upon serum cobalamin, total homocysteine (tHcy) and methylmalonic acid (MMA) analyses in a population-based sample.
  75. ncbi Oxidative stress parameters in urine from patients with disorders of propionate metabolism: a beneficial effect of L:-carnitine supplementation
    Graziela S Ribas
    Programa de Pós Graduação em Ciências Farmacêuticas, UFRGS, Ipiranga 2752, Porto Alegre, RS, 90610 000, Brazil
    Cell Mol Neurobiol 32:77-82. 2012
    ....
  76. ncbi Determination of methylmalonic acid in urine by HPLC with intramolecular excimer-forming fluorescence derivatization
    Osama Y Al-Dirbashi
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia
    Biomed Chromatogr 20:54-60. 2006
    ..and validated an HPLC method with intramolecular excimer-forming fluorescence derivatization to determine methylmalonic acid, a unique biochemical marker for methylmalonic aciduria...
  77. ncbi Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats
    Carolina Gonçalves Fernandes
    Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, Universidade Federal de Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, Brazil
    Cell Mol Neurobiol 31:775-85. 2011
    ..propionic acidemia are organic acidemias biochemically characterized by predominant tissue accumulation of methylmalonic acid (MMA) and propionic acid (PA), respectively...
  78. ncbi Vitamin B-12 treatment has limited effect on health-related quality of life among individuals with elevated plasma methylmalonic acid: a randomized placebo-controlled study
    A M Hvas
    Department of Haematology, Aas, Aarhus University Hospital, Aarhus Kommunehospital, Nørrebrogade 44, 8000 Aarhus C, Denmark
    J Intern Med 253:146-52. 2003
    ..To examine the hypothesis that treatment with vitamin B-12 improves health-related quality of life (HRQOL) in individuals with biochemical signs of vitamin B-12 deficiency...
  79. ncbi Common metabolic profile in infants indicating impaired cobalamin status responds to cobalamin supplementation
    Anne Lise Bjørke-Monsen
    Department of Clinical Biochemistry, Haukeland University Hospital, N 5021 Bergen, Norway
    Pediatrics 122:83-91. 2008
    ..A metabolic profile consistent with impaired cobalamin status is prevalent in breastfed infants. We investigated whether this profile reflects immature organ systems or impaired cobalamin status...
  80. ncbi Significant correlations of plasma homocysteine and serum methylmalonic acid with movement and cognitive performance in elderly subjects but no improvement from short-term vitamin therapy: a placebo-controlled randomized study
    Catharina Lewerin
    Department of Medicine at the Sahlgrenska Academy, Goteborg University, Goteborg, Sweden
    Am J Clin Nutr 81:1155-62. 2005
    ..Deficiencies of vitamin B-12, folic acid, and vitamin B-6-as defined by laboratory measures-occur in 10-20% of elderly subjects. The clinical significance remains unresolved...
  81. ncbi The limited value of methylmalonic acid, homocysteine and holotranscobalamin in the diagnosis of early B12 deficiency
    Andrew Goringe
    Department of Haematology, University Hospital of Wales, Cardiff CF14 4XN, UK
    Haematologica 91:231-4. 2006
    ..b>Methylmalonic acid, homocysteine, holotranscobalamin and neutrophil hypersegmentation index were measured before and after ..
  82. ncbi Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults
    Joshua W Miller
    Department of Medical Pathology, School of Medicine, University of California, Davis, CA 95817, USA
    Blood 100:718-20. 2002
    ..genotype on indices of B12 status, including total serum B12, the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine, in 128 healthy older adults (ages 40-88 years)...
  83. ncbi Vitamin B(12) deficiency stimulates osteoclastogenesis via increased homocysteine and methylmalonic acid
    Bart L T Vaes
    Division of Human Nutrition, Wageningen University and Research Centre, Wageningen, The Netherlands
    Calcif Tissue Int 84:413-22. 2009
    ..vitamin B(12) deficiency is especially prevalent in the elderly and causes increased homocysteine (Hcy) and methylmalonic acid (MMA) levels...
  84. ncbi Automated assay for the determination of methylmalonic acid, total homocysteine, and related amino acids in human serum or plasma by means of methylchloroformate derivatization and gas chromatography-mass spectrometry
    Amrei Windelberg
    LOCUS for Homocysteine and Related Vitamins, and Section for Pharmacology, Institute of Medicine, University of Bergen, Norway
    Clin Chem 51:2103-9. 2005
    The combined measurement of methylmalonic acid (MMA) and total homocysteine (tHcy) in serum or plasma is useful in diagnosing and distinguishing between cobalamin and folate deficiencies...
  85. pmc Metabolic evidence of vitamin B-12 deficiency, including high homocysteine and methylmalonic acid and low holotranscobalamin, is more pronounced in older adults with elevated plasma folate
    Joshua W Miller
    School of Medicine, Department of Medical Pathology and Laboratory Medicine, University of California, Davis, CA, USA
    Am J Clin Nutr 90:1586-92. 2009
    ..of low serum vitamin B-12 and elevated folate is associated with higher concentrations of homocysteine and methylmalonic acid and higher odds ratios for cognitive impairment and anemia than the combination of low vitamin B-12 and ..
  86. ncbi Relationship between methylmalonic acid, homocysteine, vitamin B12 intake and status and socio-economic indices, in a subset of participants in the British National Diet and Nutrition Survey of people aged 65 y and over
    C J Bates
    MRC Human Nutrition Research, Elsie Widdowson Laboratory, Cambridge, UK
    Eur J Clin Nutr 57:349-57. 2003
    ..Assessment of functional vitamin B(12) status in a subset of the respondents in the British National Diet and Nutrition Survey of people aged 65 y and over...
  87. ncbi Quantitation of methylmalonic acid in plasma using liquid chromatography-tandem mass spectrometry
    Claudine Fasching
    Pathology and Laboratory Medicine Service, Veterans Affairs Medical Center, Minneapolis, MN, USA
    Methods Mol Biol 603:371-8. 2010
    b>Methylmalonic acid (MMA), a biochemical marker for vitamin B12 deficiency, is commonly measured in serum and urine using liquid chromatography-tandem mass spectrometry (LC-MS-MS) with electrospray ionization...
  88. pmc Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics
    M G Garrod
    USDA, ARS Western Human Nutrition Research Center, Davis, CA 95817, USA
    Eur J Clin Nutr 64:503-9. 2010
    ..A common polymorphism, C776G, in the plasma B12 transport protein transcobalamin (TC), encodes for either proline or arginine at codon 259. This polymorphism may affect the affinity of TC for B12 and subsequent delivery of B12 to tissues...
  89. ncbi Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians
    Wolfgang Herrmann
    Central Laboratory, Department of Clinical Chemistry, Saarland University Hospital, Homburg, Germany
    Am J Clin Nutr 78:131-6. 2003
    ..Vegetarians have a lower intake of vitamin B-12 than do omnivores. Early and reliable diagnosis of vitamin B-12 deficiency is very important...
  90. pmc Holotranscobalamin, a marker of vitamin B-12 status: analytical aspects and clinical utility
    Ebba Nexo
    Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark
    Am J Clin Nutr 94:359S-365S. 2011
    ..of holoTC and vitamin B-12 to identify individuals with vitamin B-12 deficiency (elevated concentration of methylmalonic acid) suggest that holoTC performs better than total vitamin B-12...
  91. ncbi Low vitamin B-12 status and risk of cognitive decline in older adults
    Robert Clarke
    Clinical Trial Service Unit, University of Oxford, University of Oxford, Oxford, United Kingdom
    Am J Clin Nutr 86:1384-91. 2007
    ..Elevated total homocysteine (tHcy) concentrations have been associated with cognitive impairment, but it is unclear whether low vitamin B-12 or folate status is responsible for cognitive decline...
  92. ncbi Role of homocysteine, cystathionine and methylmalonic acid measurement for diagnosis of vitamin deficiency in high-aged subjects
    W Herrmann
    University Hospital of the Saarland, Homburg Saar, Germany
    Eur J Clin Invest 30:1083-9. 2000
    ....
  93. ncbi Cobalamin status and its biochemical markers methylmalonic acid and homocysteine in different age groups from 4 days to 19 years
    Anne Lise Bjørke Monsen
    Department of Pediatrics, University of Bergen, N 5021 Bergen, Norway
    Clin Chem 49:2067-75. 2003
    Recent data indicate that cobalamin and folate status, including the metabolic markers methylmalonic acid (MMA) and total homocysteine (tHcy), undergo marked changes during childhood, particularly during the first year.
  94. ncbi Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)
    Friederike Hörster
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, D 69120 Heidelberg, Germany
    Pediatr Res 62:225-30. 2007
    ..found most frequently in mut0 (61%) and cblB patients (66%), and was predicted by the urinary excretion of methylmalonic acid (MMA) before CRF...
  95. ncbi Effect of oral vitamin B-12 with or without folic acid on cognitive function in older people with mild vitamin B-12 deficiency: a randomized, placebo-controlled trial
    Simone J Eussen
    Division of Human Nutrition, Wageningen University, Wageningen, Netherlands
    Am J Clin Nutr 84:361-70. 2006
    ..Vitamin B-12 deficiency is associated with cognitive impairment in older people. However, evidence from randomized trials of the effects of vitamin B-12 supplementation on cognitive function is limited and inconclusive...
  96. ncbi Holotranscobalamin--a first choice assay for diagnosing early vitamin B deficiency?
    A M Hvas
    Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus C, Denmark
    J Intern Med 257:289-98. 2005
    ..The performance of holotranscobalamin (holoTC) was compared with the other markers of vitamin B12 deficiency, and the influence of age, renal function, and thyroid status was examined...
  97. ncbi Evaluation of indicators of cobalamin deficiency defined as cobalamin-induced reduction in increased serum methylmalonic acid
    B J Bolann
    Laboratory of Clinical Biochemistry, Haukeland University Hospital, N 5021 Bergen, Norway
    Clin Chem 46:1744-50. 2000
    ..However, serum cobalamin and other commonly used tests have limited ability to diagnose a deficiency state...
  98. ncbi Determinants of plasma methylmalonic acid in a large population: implications for assessment of vitamin B12 status
    Anna Vogiatzoglou
    OPTIMA, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
    Clin Chem 55:2198-206. 2009
    b>Methylmalonic acid (MMA) in plasma or serum is widely used for assessment of vitamin B(12) status. However, data are sparse regarding factors, besides renal function, that may influence MMA concentrations...
  99. pmc Unmetabolized serum folic acid and its relation to folic acid intake from diet and supplements in a nationally representative sample of adults aged > or =60 y in the United States
    Regan L Bailey
    Office of Dietary Supplements, National Institutes of Health, Bethesda, MD, USA
    Am J Clin Nutr 92:383-9. 2010
    ..Unmetabolized serum folic acid (UMFA) has been detected in adults. Previous research indicates that high folic acid intakes may be associated with risk of cancer...
  100. ncbi Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease
    Patrícia Matos Biselli
    Genetics and Molecular Biology Research Unit UPGEM, Sao Jose do Rio Preto Medical School FAMERP, Av Brigadeiro Faria Lima, N masculine 5416, Bloco U 6, Sao Jose do Rio Preto, SP, 15 090 000, Brazil
    J Thromb Thrombolysis 29:32-40. 2010
    ..This study investigated the influence of MTHFR and MTR gene polymorphisms, plasma folate and MMA on Hcy concentrations and CAD development. MMA and folate concentrations were also investigated according to the polymorphisms...
  101. ncbi Effect of supplementation with cobalamin carried either by a milk product or a capsule in mildly cobalamin-deficient elderly Dutch persons
    Rosalie A M Dhonukshe-Rutten
    Department of Human Nutrition, Wageningen University, Wageningen, The Netherlands
    Am J Clin Nutr 82:568-74. 2005
    ..A high prevalence of cobalamin deficiency occurs in the elderly population, which may be treated orally or with injections. Little is known about the relative bioavailability of crystalline cobalamin added to food products...

Research Grants26

  1. Maternal One Carbon Metabolism and Low Birth Weight Infant
    Satish C Kalhan; Fiscal Year: 2013
    ..will be related to the macro and micronutrient status of the mother estimated by dietary recall, plasma B12, methylmalonic acid, pyridoxine and red blood cell folate levels...
  2. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri H Beaty; Fiscal Year: 2013
    ..Munger of Utah State University (long time consultant to this project) to measure levels of vitamin B12 and methylmalonic acid in serum samples from mothers of cleft cases to evaluate biological models relevant to one carbon metabolism ..
  3. STRUCTURE & FUNCTION OF B12 BINDING PROTEINS
    Robert Allen; Fiscal Year: 1993
    ..We will study the metabolism of methylmalonic acid and investigate the possibility that it has an important and overlooked biochemical function...
  4. EARLY URINE B12 DEFICIENCY DETECTION IN ELDERLY
    ERIC NORMAN; Fiscal Year: 1990
    The purposes of the proposed research will be to validate the quantitation of urinary methylmalonic acid (MMA) as a screening tool for vitamin B12 (cobalamin) deficiency and to determine the prevalence of B12 deficiency in risk groups of ..
  5. FOOD FOLATE FORTIFICATION EFFECT ON FOLATE STATUS
    Jacob Selhub; Fiscal Year: 2001
    ..abstract_text> ..
  6. Measurement of folate in fortified cereal grain products
    Jacob Selhub; Fiscal Year: 2003
    ..In order to assess the impact of folic acid fortification, it is necessary to have valid data on the actual synthetic folic acid content of fortified foods. ..
  7. Vitamin B12 and Folate in Relation to Cognition in the Framingham Offspring Study
    Jacob Selhub; Fiscal Year: 2010
    ..Furthermore, validity was threatened by misclassification bias because sensitive B12-status markers, like methylmalonic acid (MMA), were not used...
  8. Vitamin B12 Status of Elderly Americans
    MARTHA MORRIS; Fiscal Year: 2003
    ..New vitamin B12 status indicators, including the metabolites homocysteine and methylmalonic acid, have been proposed, but tests of their utility have been performed mainly in those later confirmed to be ..
  9. B12 Nutrition in the Aged
    Sally Stabler; Fiscal Year: 2007
    ..many seniors continue to have undiagnosed and untreated vitamin B 12 deficiency as shown by elevated serum methylmalonic acid concentrations...
  10. SUBTLE DISTURBANCES OF COBALAMIN STATUS
    Ralph Carmel; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  11. Hawaii Colorectal Cancer Family Registry
    Loic Le Marchand; Fiscal Year: 2008
    ..We will also propose a CFR pilot study exploring the feasibility of assessing assorted mating as evidence for population stratification. ..
  12. Case-Control Study of Adenoma in Sao Paulo Japanese
    Loic Le Marchand; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  13. Ethnic/Racial Minorities in the Colon CFR
    Loic Le Marchand; Fiscal Year: 2008
    ..abstract_text> ..
  14. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
    ..abstract_text> ..
  15. Diet, Genetic Susceptibility and Colorectal Neoplasia
    Loic Le Marchand; Fiscal Year: 2006
    ..Genotyping for random markers will permit to exclude residual confounding by ethnicity. ..
  16. Vitamin B6, Vascular Dysfunction and Adhesion Molecules in Sickle Cell Disease
    Ralph Green; Fiscal Year: 2010
    ..The positive health impact of vitamin supplementation that could ameliorate the high morbidity and mortality associated with this disorder has the potential for high benefit with minimal cost and risk. ..
  17. Gene and Nutrient Etiologies of Human Heart Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because these defects result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  18. Gene-nutrient Etiologies of Neural Tube Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  19. Canine Multiple System Degeneration: A Novel Animal Model of Parkinsonism
    DENNIS O BRIEN; Fiscal Year: 2008
    ..This research will develop a novel animal model of the disease which can be used to test theories about the cause and develop new therapies. [unreadable] [unreadable] [unreadable]..
  20. Effects of Alcohol on Urinary Estrogen and Androgen Levels in Women
    Somdat Mahabir; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  21. The TGFbeta Pathway, Gene Variants and Colorectal Neopl*
    Loic Le Marchand; Fiscal Year: 2005
    ..abstract_text> ..
  22. GENES, DIET AND CARCINOGEN ACTIVATION IN SMOKERS
    Loic Le Marchand; Fiscal Year: 2004
    ..The elucidation of the main enzymes responsible for carcinogen activation and of the impact of dietary factors on these enzymes would have important implications for cancer prevention. ..
  23. Oleic Acid Effects on Transit and Absorption in SBS
    Charlene Compher; Fiscal Year: 2004
    ....
  24. The Transcobalamin Receptor in Cobalamin Homeostasis
    Edward V Quadros; Fiscal Year: 2010
    ..The two metabolites, homocysteine (HCY) and methylmalonic acid (MMA) that is elevated in both Cbl and folate deficiency have been implicated in vascular damage and ..
  25. B12 Absorption, Kinetics and Transcobalamin Genotype
    Joshua Miller; Fiscal Year: 2004
    ..This novel method would ultimately replace the Schilling test, the current gold standard, but flawed and cumbersome method for clinical assessment of B 12 absorptive capacity. ..
  26. Folate, DNA Methylation and Breast Tumorigenesis
    Joshua Miller; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..