methionine adenosyltransferase deficiency
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.
MONDO:0019222
inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a
MAT I/III deficiency
exact
MAT deficiency
exact
brain demyelination due to methionine adenosyltransferase deficiency
exact
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
exact
isolated persistent hypermethioninemia
exact
methionine adenosyltransferase deficiency
exact
methionine adenosyltransferase deficiency, autosomal recessive
exact
SPBC14F5.05c