Pyruvate Dehydrogenase Deficiency (PDH) is a human genetic disease. It follows a dominant inheritance pattern, but is approximately equally prevalent in both males and females, though where there is only one copy of the gene involved from the mother, male foetuses may not be viable. Due to the genes involved being essential to life, some of the genetic causes are extremely rare, in the order of 1 in millions. It affects a gene which codes for a critical enzyme complex, the Pyruvate dehydrogenase complex (PDC) which links the metabolic pathways of glycolysis and the citric acid cycle by transforming pyruvate into Acetyl CoA

The pyruvate dehydrogenase complex facilitates oxidative decarboxylation, the chemical reaction between glycolysis and the citric acid cycle.

Presentation

PDH causes Lactic acidosis; large amounts of lactic acid in the blood but with a normal pyruvate/lactate ratio. Symptoms are varied, and include developmental defects (especially of the brain and nervous system), muscular spasticity and early death.

Genetics

PDH is most commonly linked to the alpha unit of E1, but recessive variants exist.

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