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Pyruvate dehydrogenase deficiency



Pyruvate dehydrogenase deficiency
Classification & external resources
ICD-10 E74.4
OMIM 312170
DiseasesDB 30060
eMedicine ped/1969 
MeSH D015325

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

Additional recommended knowledge

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

Presentation

PDHA 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

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


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Pyruvate_dehydrogenase_deficiency". A list of authors is available in Wikipedia.
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