Disease-gene associations mined from literature

Human genes for pyruvate decarboxylase deficiency

Pyruvate decarboxylase deficiency [DOID:3649]

A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.

Synonyms:  pyruvate decarboxylase deficiency,  DOID:3649,  deficiency of pyruvic dehydrogenase,  pyruvate dehydrogenase complex deficiency disease,  pyruvate dehydrogenase deficiency ...

Linkouts:  OMIM