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Summary
METHIONINE ADENOSYL TRANSFERASE DEFICIENCY
HYPERMETHIONINEMIA MAT I/III DEFICIENCY
250850
OMIM = Online Medalian Inheritance of Men
10q23.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • diet
  • S-Adenosylmethionine (AdoMet)
rare
autosomal recessive
autosomal dominant
An important finding emerging from this study is that isolated persistent hypermethioninemia is not benign [Chamberlin et al. 1996] transient hypermethioninemia in infants fed a high-protein diet (Gaull 1977) and of unknown origin (Tsuchiyama 1982, Jhaveri 1982)
symptoms
Amino acids, plasma
Amino acids, urine
dystonia
hyperreflexia
mental retardation
myopathy
no clinical signs or symptoms
unusual odor
laboratory finding
L-Methionine250.001300.0010.0030.00-Ámol/lplasma
L-Methionine 5.0029.00increasedurine
Methionine adenosyltransferase10.0020.00 100.00% of normalliver
MRI, brain, white matter abnormalities -
Homocysteine increasedplasma
Literature
Phillips III JAInherited defects in growth hormone synthesis and actionThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203023-30441995
Ducluzeau PHet al.Depletion of mitochondrial DNA associated with infantile cholestasis and progressve liver fibrosisJ Hepatol300149-1551999
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Lazarow PBMoser HWDisorders of peroxisome biogenesisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2712287-23241995
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Taanman JWet al.Molecular mechanism in mitochondrial DNA depletion syndromeHum Mol Genet60935-9421997
Rasmussen Met al.Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial diseaseJ Child Neurol157473-4772000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Morris AAet al.Liver failure associated with mitochondrial DNA depletionJ Hepatol280556-5631998
Nowaczyk MJet al.Central nervous system malformations in ethylmalonic encephalopathyGenet750292-2961998