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Pyruvate Dehydrogenase Deficiency

Prevalence: 1/200000
mitochondrial
Official·OMIM:312170Official·ORPHA765

Lactic acidosis and neurological disorder due to PDHA1 gene mutations.

Associated Genes

PDHA1Pyruvate Dehydrogenase E1 Subunit Alpha 1
Chromosome XX-Linked Dominant