Methionine adenosyltransferase I/III deficiency

Orpha code: 168598OMIM code: 250850

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.

Disease data
Classification

Disease

Synonyms
MAT I/III deficiency
Niedobór adenozylotransferazy metioniny
Niedobór MAT
Niedobór MAT I/III
Niedobór adenozylotransferazy metioninowej I/III
Mudd's disease
ORPHA code
168598
OMIM code
250850
ICD10 code
E72.1
ICD11 code
-

No additional description.

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