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Entry Name Description Category Pathway Gene
H00072 Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H01998 Pyruvate dehydrogenase E1-beta deficiency ... cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been reported. Primary defects in the E1 beta subunit of the PDH complex ... Inherited metabolic disorder PDHB [HSA:5162] [KO:K00162]
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