Methionine adenosyltransferase deficiency
Methionine adenosyltransferase 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.
Also known as brain demyelination due to methionine adenosyltransferase deficiency, hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, isolated persistent hypermethioninemia, MAT deficiency, MAT I/III deficiency, methionine adenosyltransferase deficiency, methionine adenosyltransferase deficiency, autosomal recessive — per MONDO