- OMIM ID
-
312170
- OMIM term:
- PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
- Alternative terms:
-
PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY
PYRUVATE DECARBOXYLASE DEFICIENCY
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
PDH DEFICIENCY
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY
ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED
- (∗) Location:
- Xp22.12
- (†) Associated OMIM genes:
- PDHA1
- (‡) Associated MGI genes:
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