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Brain demyelination due to methionine adenosyltransferase deficiency

Disease definition

Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

ORPHA:168598

Classification level: Disorder
  • Synonym(s):
    • MAT I/III deficiency
    • MAT deficiency
    • Methionine adenosyltransferase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E72.1
  • OMIM: 250850
  • UMLS: C0268621
  • MeSH: -
  • GARD: 8397
  • MedDRA: -

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