Pyruvat-Dehydrogenase-Komplex-Defizienz
PYRUVATE DECARBOXYLASE DEFICIENCY
OMIM: 312170
Synonyme
- PDHc-Mangel
- ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
- PYRUVATE DEHYDROGENASE DEFICIENCY
- PDH DEFICIENCY
- ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY
- ATAXIA WITH LACTIC ACIDOSIS I
Genorte
- PDHX(OMIM 608769)