Methionine adenosyltransferase I/III deficiency

Orpha code: 168598OMIM code: 250850

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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