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Brain demyelination due to methionine adenosyltransferase deficiency

Synonym(s) MAT I/III deficiency
MAT deficiency
Methionine adenosyltransferase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E72.1
MeSH -
MedDRA -


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.

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