Gajja S Salomons

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
    Gajja S Salomons
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 62:414-8. 2007
  2. pmc Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
    David Cheillan
    Hospices Civils de Lyon, Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Groupement Hospitalier, Bron, France
    Orphanet J Rare Dis 7:96. 2012
  3. ncbi request reprint X-linked creatine transporter defect: an overview
    G S Salomons
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 26:309-18. 2003
  4. doi request reprint Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    Ofir T Betsalel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Neurogenetics 9:183-90. 2008
  5. ncbi request reprint Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application
    Efraim H Rosenberg
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 28:890-6. 2007
  6. ncbi request reprint Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 58:626-30. 2005
  7. pmc Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:141-9. 2012
  8. doi request reprint Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes
    Joseph D T Ndika
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, the Netherlands Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands
    Gene 533:488-93. 2014
  9. pmc Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
    Ofir T Betsalel
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 19:56-63. 2011
  10. doi request reprint Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
    Ofir T Betsalel
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 105:596-601. 2012

Detail Information

Publications65

  1. ncbi request reprint An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
    Gajja S Salomons
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 62:414-8. 2007
    ..Here, we report an intriguing "silent" mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with alpha-AASA dehydrogenase deficiency...
  2. pmc Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
    David Cheillan
    Hospices Civils de Lyon, Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Groupement Hospitalier, Bron, France
    Orphanet J Rare Dis 7:96. 2012
    ....
  3. ncbi request reprint X-linked creatine transporter defect: an overview
    G S Salomons
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 26:309-18. 2003
    ..In approximately 50% of the female carriers, learning disabilities of varying degrees have been noted...
  4. doi request reprint Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    Ofir T Betsalel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Neurogenetics 9:183-90. 2008
    ..This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation...
  5. ncbi request reprint Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application
    Efraim H Rosenberg
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 28:890-6. 2007
    ..Pro554Leu) are pathogenic mutations and four variants (p.Lys4Arg, p.Gly26Arg, p.Met560Val, and p.Val629Ile) are nonpathogenic. The present study provides an improved diagnostic tool to classify sequence variants of unknown significance...
  6. ncbi request reprint Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 58:626-30. 2005
    ..1315A-->G;p.Asn439Asp). Overexpression of this mutant protein showed marked reduction of the enzyme activity...
  7. pmc Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:141-9. 2012
    ..After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect...
  8. doi request reprint Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes
    Joseph D T Ndika
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, the Netherlands Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands
    Gene 533:488-93. 2014
    ..To the best of our knowledge, this is the first experimental evidence of a pseudogene with stronger promoter activity than its parental gene...
  9. pmc Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
    Ofir T Betsalel
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 19:56-63. 2011
    ..To provide an accessible database, the 109 currently known SLC6A8 variants, including 35 novel ones, are included in a newly developed LOVD DNA variation database...
  10. doi request reprint Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
    Ofir T Betsalel
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 105:596-601. 2012
    ..All variants reported in the present and previous studies are included in the Leiden Open Source Variant Database (LOVD) of SLC6A8 (www.LOVD.nl/SLC6A8)...
  11. ncbi request reprint Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
    Ligia S Almeida
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands
    Mol Genet Metab 82:214-9. 2004
    ..The SLC6A8 deficient patients all show increased creatine/creatinine (Cr/Crn) ratio in urine demonstrating the importance of the Cr/Crn ratio as a pathognomonic marker of the SLC6A8 deficiency...
  12. pmc Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
    Am J Hum Genet 92:627-31. 2013
    ..Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria...
  13. doi request reprint IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
    Martijn Kranendijk
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, Netherlands
    Science 330:336. 2010
    ..These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer...
  14. doi request reprint Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene
    Cristina Martínez-Muñoz
    VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Gene 418:53-9. 2008
    ..RT-PCR and sequence analysis showed that this splice variant is conserved in evolution, since we also detected it in mouse. This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse...
  15. pmc Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy
    Jojanneke H J Huck
    Department of Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 74:745-51. 2004
    ..RPI is the second known inborn error in the reversible phase of the PPP, confirming that defects in pentose and polyol metabolism constitute a new area of inborn metabolic disorders...
  16. doi request reprint Transaldolase deficiency in a two-year-old boy with cirrhosis
    Mirjam M Wamelink
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands
    Mol Genet Metab 94:255-8. 2008
    ..The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given...
  17. ncbi request reprint Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts
    Efraim H Rosenberg
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:345-6. 2006
    ....
  18. pmc Progress in understanding 2-hydroxyglutaric acidurias
    Martijn Kranendijk
    Metabolic Unit Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:571-87. 2012
    ....
  19. ncbi request reprint Laboratory diagnosis of defects of creatine biosynthesis and transport
    Nanda M Verhoeven
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chim Acta 361:1-9. 2005
    ..DNA mutation analysis of the genes involved can prove the defects at the molecular level. To diagnose female patients with SLC6A8 deficiency, mutation analysis may be the only choice...
  20. doi request reprint Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency
    Joseph D T Ndika
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 106:48-54. 2012
    ..Here we describe the clinical outcome and response to creatine supplementation in a patient of the second family affected with AGAT deficiency-a 9-year-old girl...
  21. pmc Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands
    Am J Hum Genet 76:358-60. 2005
    ....
  22. ncbi request reprint Exocytotic release of creatine in rat brain
    Ligia S Almeida
    Department of Clinical Chemistry, Metabolic Unit, VU Medical Center, Amsterdam, The Netherlands
    Synapse 60:118-23. 2006
    ....
  23. doi request reprint An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
    Marjan E Steenweg
    Department of Child Neurology and VU University Medical Center, De Boelelaan 1117, Amsterdam, The Netherlands
    Hum Mutat 31:380-90. 2010
    ..nl/L2HGDH). Every user can access the database and submit variants/patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship...
  24. doi request reprint Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
    Martijn Kranendijk
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 31:279-83. 2010
    ..It remains possible that several classifications for idiopathic D-2-HGA patients with diverse genetic loci will be revealed in future studies...
  25. ncbi request reprint Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
    Nanda M Verhoeven
    Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 49:803-5. 2003
  26. ncbi request reprint D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
    E A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 88:53-7. 2006
    ..The increase of D-2-HG in SSADH deficiency can be explained by the action of hydroxyacid-oxoacid transhydrogenase, a reversible enzyme that oxidases GHB in the presence of 2-ketoglutarate yielding SSA and D-2-HG...
  27. ncbi request reprint A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
    N M Verhoeven
    Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 28:169-79. 2005
    ..Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogeneous clinical presentation with highly variable severity...
  28. ncbi request reprint Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 66:494-8. 2006
    ..The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized...
  29. doi request reprint Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 79:264-72. 2011
    ..We conclude that testing for creatine transporter defect should be considered in females with (mild) mental retardation. Screening by DNA analysis of the SLC6A8 gene is recommended...
  30. doi request reprint Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Med Genet 50:754-9. 2013
    ..In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier...
  31. doi request reprint Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine
    Mariska Davids
    Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    FEBS Lett 586:3653-7. 2012
    ..We conclude that promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis...
  32. pmc Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter
    J Patrick van der Voorn
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands
    Neuroradiology 51:669-75. 2009
    ....
  33. doi request reprint Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients
    W V Wickenhagen
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 32:264-8. 2009
    ..This enzyme assay will have additional utility in further differentiating patients with D: -2-HGA and L: -2-HGA and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene...
  34. ncbi request reprint Unusual variants of Alexander's disease
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Ann Neurol 57:327-38. 2005
    ..In conclusion, DNA diagnostics is warranted in patients who display MRI features suggestive of Alexander's disease, even if they do not meet the full set of previously established MRI criteria...
  35. pmc High prevalence of SLC6A8 deficiency in X-linked mental retardation
    Efraim H Rosenberg
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 75:97-105. 2004
    ..M560V). Our data indicate that the frequency of SLC6A8 mutations in the XLMR population is close to that of CGG expansions in FMR1, the gene responsible for fragile-X syndrome...
  36. doi request reprint Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification
    Efraim H Rosenberg
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center PK 1 X009, 1081 HV Amsterdam, The Netherlands
    Mol Genet Metab 97:312-4. 2009
    ..The findings illustrate the opportunities and pitfalls of these methods in the search for identification of the pathogenic mutations in the case that only scarce material is available such as CSF...
  37. doi request reprint Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 105:155-8. 2012
    ..We report the most favorable clinical and biochemical outcome on treatment in our patient...
  38. ncbi request reprint Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency
    Nanda M Verhoeven
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 50:441-3. 2004
  39. pmc X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
    G S Salomons
    VU Medical Center, Metabolic Unit, Department of Clinical Chemistry, 1081 HV Amsterdam, The Netherlands
    Am J Hum Genet 68:1497-500. 2001
    ..The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28...
  40. pmc Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
    N M Verhoeven
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, 1007 MB Amsterdam, The Netherlands
    Am J Hum Genet 68:1086-92. 2001
    ..The detection of this new inborn error of pentose metabolism has implications for the diagnostic workup of liver problems of unknown etiology...
  41. ncbi request reprint Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
    L S Almeida
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 89:392-4. 2006
    ..Furthermore, the transient transfection of HeLa cells will be important for functional analysis of variants of unknown consequence (i.e., missense mutations)...
  42. doi request reprint Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria
    M Kranendijk
    Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 32:713-9. 2009
    ..Residual activity was detected in cells derived from one L-2-HGA patient. The L-2-HGDH assay will be valuable for examining in vitro riboflavin/FAD therapy to rescue L-2-HGDH activity...
  43. ncbi request reprint Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency
    G S Salomons
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:23-8. 2007
    ..Our findings increase the number of enzyme-confirmed MCD-deficient patients by >50%, and expand our understanding of the phenotypic and molecular heterogeneity of this rare disorder...
  44. ncbi request reprint A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
    L S Almeida
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Mol Genet Metab 91:1-6. 2007
    ..59G>C; p.Trp20Ser mutation is relatively high in these islands, as well as in other parts of Portugal. It also implies that newborn screening in these regions is warranted for this treatable disorder...
  45. ncbi request reprint Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency
    Kim M Cecil
    Division of Radiology, Children s Hospital Medical Center, University of Cincinnati Medical Center, OH 45229, USA
    J Comput Assist Tomogr 27:44-7. 2003
    ..A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation...
  46. ncbi request reprint X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8
    Alberto Bizzi
    Department of Neuroradiology, Istituto Nazionale Neurologico C Besta, Milano, Italy
    Ann Neurol 52:227-31. 2002
    ..We report on a patient in whom a novel mutation (1221-1223delTTC) was identified...
  47. ncbi request reprint Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report
    Emilio Franzoni
    Child Neuropsychiatry Unit, Department of Pediatrics, University of Bologna, Bologna, Italy
    J Child Neurol 21:1075-80. 2006
    ..Therefore, we can affirm the importance of the history and clinical examination to look for brainstem dysfunction in patients presenting with atypical anorexia nervosa...
  48. ncbi request reprint Propensity for paternal inheritance of de novo mutations in Alexander disease
    Rong Li
    Department of Neurobiology and Civitan International Research Center 529, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294 0021, USA
    Hum Genet 119:137-44. 2006
    ....
  49. pmc X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    Kimberly A Hahn
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 70:1349-56. 2002
    ..The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology...
  50. ncbi request reprint Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid
    David Cheillan
    Clin Chem 52:775-7. 2006
  51. ncbi request reprint Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology
    Sylvia Stockler
    Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, British Columbia Children s Hospital, Vancouver, B C, V6H 3V4, Canada
    Subcell Biochem 46:149-66. 2007
    ..In this review, also the importance of CCDSs for the unravelling of the (patho)physiology of cerebral creatine metabolism is discussed...
  52. ncbi request reprint Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening
    Angela Arias
    Institut de Bioquimica Clinica, Servicio de Bioquímica y Genética Molecular, Hospital Clínic and Centre for Biomedical Research on Rare Diseases CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
    Clin Biochem 40:1328-31. 2007
    ..To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall...
  53. ncbi request reprint Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation
    Krijn T Verbruggen
    University Medical Center Groningen, Beatrix Children s Hospital, University of Groningen, Groningen, The Netherlands
    Eur J Pediatr 166:921-5. 2007
    ....
  54. ncbi request reprint Lack of creatine in muscle and brain in an adult with GAMT deficiency
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Ann Neurol 53:248-51. 2003
    ....
  55. ncbi request reprint The clinical syndrome of creatine transporter deficiency
    Ton J DeGrauw
    Division of Neurology, Childrens Hospital Medical Center, Cincinnati, OH 45229, USA
    Mol Cell Biochem 244:45-8. 2003
    ..MR Spectroscopy is a non-invasive method for obtaining a preliminary diagnosis of this disorder. Muscle creatine uptake may be normal in this disorder...
  56. ncbi request reprint Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency
    Chike B Item
    Department of Pediatrics, University Hospital and General Hospital AKH, Währingerstrasse 18 20, A 1090 Vienna, Austria
    Clin Chem 48:767-9. 2002
  57. ncbi request reprint Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
    Shinjiro Akaboshi
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland 97201, USA
    Hum Mutat 22:442-50. 2003
    ....
  58. ncbi request reprint Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology
    Krijn T Verbruggen
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
    Mol Genet Metab 91:294-6. 2007
    ..Addition of high dose ornithine to the treatment led to further normalization of plasma GAA, while cerebral Cr and GAA did not improve further...
  59. ncbi request reprint Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome
    Ina Knerr
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet B Neuropsychiatr Genet 144:946-8. 2007
    ....
  60. ncbi request reprint Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins
    Vinod K Misra
    Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA
    Mol Genet Metab 86:200-5. 2005
    ....
  61. ncbi request reprint X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation
    Maria C Schiaffino
    Department of Pediatrics, G Gaslini Institute, State University of Genoa, Genoa, Italy
    Neurogenetics 6:165-8. 2005
    ....
  62. ncbi request reprint Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease
    Vassili Valayannopoulos
    Metabolic Unit, Necker Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France
    J Pediatr 149:713-7. 2006
    ..Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients...
  63. ncbi request reprint Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
    Ronny Jung
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Mol Genet Metab 88:256-60. 2006
    ..In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome...
  64. ncbi request reprint X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
    Amy J Clark
    J C Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Hum Genet 119:604-10. 2006
    ..Thus, DNA sequence analysis and/or a Cr:Crn urine screen is warranted in any male with MR of unknown cause...
  65. ncbi request reprint Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria
    Celine Lee
    Children s Hospital, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany
    J Child Neurol 21:538-40. 2006
    ....