A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
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pyruvate kinase hyperactivity
MONDO:0007067
oxoglutaricaciduria
MONDO:0008759
multiple acyl-CoA dehydrogenase deficiency
MONDO:0009282
pyruvate dehydrogenase E2 deficiency
MONDO:0009502
pyruvate dehydrogenase E3-binding protein deficiency
MONDO:0009503
pyruvate dehydrogenase E3 deficiency
MONDO:0009529