E A Struys

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. ncbi Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency
    Eduard Alexander Struys
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, Netherlands
    Pediatrics 130:e1716-9. 2012
  2. ncbi The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:909-16. 2012
  3. ncbi Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress
    Markus Ralser
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    J Biol 6:10. 2007
  4. ncbi Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development
    Erwin E W Jansen
    Division of Medical Genetics, Department of Pediatrics, Children s Hospital and the University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    BMC Dev Biol 8:112. 2008
  5. ncbi Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency
    E A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam The Netherlands
    J Inherit Metab Dis 28:913-20. 2005
  6. ncbi 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
  7. ncbi D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect
    Eduard A Struys
    VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:21-9. 2006
  8. ncbi Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
    E A Struys
    VU University Medical Centre, Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:690-3. 2007
  9. ncbi Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, The Netherlands
    Clin Chem 50:1391-5. 2004
  10. ncbi Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
    E A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    J Inherit Metab Dis 28:921-30. 2005

Collaborators

Detail Information

Publications46

  1. ncbi Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency
    Eduard Alexander Struys
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, Netherlands
    Pediatrics 130:e1716-9. 2012
    ..Based upon the clinically evident pyridoxine-responsive seizures in these 2 siblings, we recommend considering pyridoxine supplementation to patients affected with molybdenum cofactor or sulfite oxidase deficiencies...
  2. ncbi The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:909-16. 2012
    ..In all 40 urine samples from 35 individuals with proven PDS, we detected increased levels of P6C. Therefore, we conclude that the diagnostic power of the assessments of urinary P6C and α-AASA is comparable...
  3. ncbi Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress
    Markus Ralser
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    J Biol 6:10. 2007
    ..Eukaryotic cells have evolved various response mechanisms to counteract the deleterious consequences of oxidative stress. Among these processes, metabolic alterations seem to play an important role...
  4. ncbi Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development
    Erwin E W Jansen
    Division of Medical Genetics, Department of Pediatrics, Children s Hospital and the University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    BMC Dev Biol 8:112. 2008
    ..Because of early onset seizures and the neurostructural anomalies observed in patients, we examined metabolite features during Aldh5a1-/- embryo development...
  5. ncbi Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency
    E A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam The Netherlands
    J Inherit Metab Dis 28:913-20. 2005
    ..The method enabled the first determination of normal values for SSA in urine and pathological values of SSA in urine and cerebrospinal fluid samples derived from patients with succinic semialdehyde dehydrogenase deficiency...
  6. ncbi 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...
  7. ncbi D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect
    Eduard A Struys
    VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:21-9. 2006
    ..However, in approximately 50% of the patients with D-2-HGA examined, no pathogenic mutations have yet been found...
  8. ncbi Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
    E A Struys
    VU University Medical Centre, Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:690-3. 2007
    ..These data suggest that 2-KG has a pathophysiological role in combined D/L-2-HG aciduria...
  9. ncbi Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride
    Eduard A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, The Netherlands
    Clin Chem 50:1391-5. 2004
    ..Available methods for the determination of D- and L-2-HG in urine are either time-consuming and expensive or have not been extensively validated. We aimed to develop a method for their rapid and sensitive measurement...
  10. ncbi Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
    E A Struys
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    J Inherit Metab Dis 28:921-30. 2005
    ..Fibroblasts derived from patients with D-2-hydroxyglutaric aciduria showed normal HOT activities. Our results provide the first demonstration and preliminary kinetic characterization of HOT activity in human tissues...
  11. ncbi Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation
    Eduard A Struys
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    FEBS Lett 584:181-6. 2010
    ..We hypothesize that pipecolic acid derives from Delta(1)-piperideine-6-carboxylate by the action of Delta(1)-pyrroline-5-carboxylic acid reductase, an enzyme involved in proline metabolism...
  12. ncbi Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria
    Eduard A Struys
    Department of Clinical Chemistry, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    FEBS Lett 557:115-20. 2004
    ..The mass isotopomer distributions in D-2-HG, 2-KG and citrate, following [U-(13)C(6)]glucose and [(2)H(5)]glutamate incubations, revealed that 2-KG interconverts rapidly to D-2-HG and that D-2-HG is formed within the mitochondria...
  13. ncbi 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...
  14. ncbi 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...
  15. ncbi A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies
    M Kranendijk
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Biochim Biophys Acta 1812:1380-4. 2011
    ..Lymphoblast IDH2(wt/R140Q) showed long-term cell culture stability without loss of the heterozygous IDH2(wt/R140Q) mutation, underscoring the utility of the lymphoblast model for future biochemical and therapeutic studies...
  16. ncbi 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...
  17. ncbi Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism
    Mirjam M C Wamelink
    Metabolic Unit of the Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands
    J Chromatogr B Analyt Technol Biomed Life Sci 823:18-25. 2005
    ....
  18. ncbi Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
    M M Wamelink
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:735-42. 2007
    ..Our findings reveal novel urinary biomarkers for identification of transaldolase deficiency...
  19. ncbi The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review
    M M C Wamelink
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Inherit Metab Dis 31:703-17. 2008
    ..In this review we describe the functions of the PPP, its relation to other pathways of carbohydrate metabolism and an overview of the metabolic defects in the reversible part of the PPP...
  20. ncbi Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cells
    I V Bijnsdorp
    VU University Medical Center, Department Medical Oncology, De Boelelaan 1117 CCA 1 42, 1081 HV Amsterdam, The Netherlands
    Biochem Pharmacol 80:786-92. 2010
    ..Future studies should focus on which exact metabolic pathway is involved in the induction of angiogenesis...
  21. ncbi Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry
    D S M Schor
    Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    J Chromatogr B Analyt Technol Biomed Life Sci 780:199-204. 2002
    ..We also quantified 3-HGA in amniotic fluid of controls (range 0.056-0.11 micro mol/l; n=12) and in two samples from fetuses affected with glutaric aciduria type I...
  22. ncbi Development of a stable-isotope dilution assay for gamma-aminobutyric acid (GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical
    D S Schor
    Metabolic Unit, Department of Clinical Chemistry, University Hospital Vrije Universiteit, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 47:525-31. 2001
    ..Our results with [15N]beta-alanine indicate that GABA and beta-alanine transaminases are identical...
  23. ncbi Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening
    M M C Wamelink
    VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, Amsterdam, The Netherlands
    Mol Genet Metab 102:339-42. 2011
    ..We feel that the presented method enables fast (pre)-symptomatic detection of cystinosis patients homozygous for the 57-kb deletion, allowing early treatment...
  24. ncbi 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
  25. ncbi Serum testosterone levels measured by isotope dilution-liquid chromatography-tandem mass spectrometry in postmenopausal women versus those in women who underwent bilateral oophorectomy
    Hong N Bui
    Department of Clinical Chemistry, VU University Medical Center, PO Box 7057, Amsterdam 1007MB, The Netherlands
    Ann Clin Biochem 47:248-52. 2010
    ....
  26. ncbi 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...
  27. ncbi Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
    Mirjam M C Wamelink
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 29:532-6. 2008
    ....
  28. ncbi 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
    ....
  29. ncbi Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria
    Eduard A Struys
    Department of Clinical Chemistry, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 49:1133-8. 2003
    ....
  30. ncbi 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...
  31. ncbi Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
    N M Verhoeven
    Department of Clinical Chemistry, University Hospital Vrije Universiteit, Amsterdlam, The Netherlands
    J Inherit Metab Dis 23:835-40. 2000
    ..As the Jaffé method is still widely used for routine plasma creatinine measurements, it is important to realize it cannot be used to exclude GAMT deficiency...
  32. ncbi 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...
  33. ncbi 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...
  34. ncbi 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...
  35. ncbi Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency
    Jojanneke H J Huck
    Department of Pediatrics, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 49:1375-80. 2003
    ..Measurements of sugar phosphate intermediates of the PPP may provide new insights into metabolic defects underlying the accumulating polyols...
  36. ncbi S-adenosylhomocysteine and the ratio of S-adenosylmethionine to S-adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrations
    A Becker
    Department of Internal Medicine, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Eur J Clin Invest 33:17-25. 2003
    ..If these precursors in part explain why homocysteine is associated with cardiovascular disease, homocysteine-lowering treatment with B vitamins may be less effective than currently expected, at least in an elderly population...
  37. ncbi 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...
  38. ncbi L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients
    Marjan E Steenweg
    Dept of Child Neurology, VU Univ Medical Ctr, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Radiology 251:856-65. 2009
    ..To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging abnormalities and disease duration...
  39. ncbi Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase
    Eduard A Struys
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Metabolism 55:353-8. 2006
    ..Our results indicate that d-2-HG is a prominent GHB metabolite and provide further evidence for the existence of d-2-hydroxyglutarate transhydrogenase in different mammalian species...
  40. ncbi Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis
    Mirjam M C Wamelink
    Prenat Diagn 28:460-2. 2008
  41. ncbi 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
    ....
  42. ncbi Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures
    Jasper V Been
    Arq Neuropsiquiatr 66:288; author reply 288-9. 2008
  43. ncbi The Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness
    Rossana Mirabella
    Department of Plant Physiology, Swammerdam Institute for Life Sciences, University of Amsterdam, Kruislaan 318, 1098 SM Amsterdam, The Netherlands
    Plant J 53:197-213. 2008
    ..Based on the observation that E-2-hexenal treatment induces GABA accumulation, and that high GABA levels confer resistance to E-2-hexenal, we propose a role for GABA in mediating E-2-hexenal responses...
  44. ncbi Kinetics of homocysteine metabolism after moderate alcohol consumption
    Joline W J Beulens
    TNO (Netherlands Organization for Applied Scientific Research) Nutrition and Food Research, Department of Physiological Sciences, Zeist, The Netherlands
    Alcohol Clin Exp Res 29:739-45. 2005
    ..However, it does increase plasma vitamin B6 and decrease serum vitamin B12...
  45. ncbi Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma
    Henkjan Gellekink
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Chem 51:1487-92. 2005
    ..The SPE columns enable simple cleanup, and no metabolite derivatization is needed. The instability of AdoMet is a serious problem and can be prevented easily by immediate acidification of samples...
  46. ncbi Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency
    Eduard A Struys
    Mol Genet Metab 91:405. 2007