PDHA1 XLD unreviewed
Pyruvate dehydrogenase complex deficiency
Enzyme or protein defect
PDH E1-alpha
Accumulates or becomes deficient
Lactate, alanine, pyruvate
Key features
Congenital lactic acidosis, neurological impairment; worsened by high-carbohydrate diet
Management
Ketogenic diet; thiamine trial; dichloroacetate
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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