- OMIM ID
-
248600
- OMIM term:
- MAPLE SYRUP URINE DISEASE
- Alternative terms:
-
MSUD
BRANCHED-CHAIN KETOACIDURIA
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
BCKD DEFICIENCY
KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED
MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED
MAPLE SYRUP URINE DISEASE, E3-DEFICIENT, WITH LACTIC ACIDOSIS, INCLUDED
MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED; MSUD1A, INCLUDED
MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED; MSUD1B, INCLUDED
MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED; MSUD2, INCLUDED
MAPLE SYRUP URINE DISEASE, TYPE III, INCLUDED; MSUD3, INCLUDED
LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
LACTIC ACIDOSIS, CONGENITAL INFANTILE, DUE TO LAD DEFICIENCY, INCLUDED
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, INCLUDED
DLD DEFICIENCY, INCLUDED
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