methionine adenosyltransferase deficiency

Rare Disease

MONDO:0009607

Also Known As

MAT I/III deficiencyMAT deficiencybrain demyelination due to methionine adenosyltransferase deficiencyhypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiencyisolated persistent hypermethioninemiamethionine adenosyltransferase deficiencymethionine adenosyltransferase deficiency, autosomal recessiveMat I/III deficiencyhypermethioninemia, isolated persistentmethionine adenosyltransferase I/III deficiency

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.