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Pyruvate dehydrogenase deficiency
From Wikipedia, the free encyclopedia
| OMIM | 312170 |
|---|---|
| DiseasesDB | 30060 |
| eMedicine | ped/1969 |
Pyruvate Dehydrogenase Deficiency (PDHA) is a human genetic disease. It follows a sex-linked, dominant inheritance pattern, but is approximately equally prevalent in both males and females. 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
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.
The pyruvate dehydrogenase complex facilitates oxidative decarboxylation, the chemical reaction between glycolysis and the citric acid cycle.
The gene was mapped to two different chromosomes:
1. X chromosome
It is an X linked disorder but is neither x-linked dominant or x-linked recessive.
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