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Summary Literature (0)
DOID:3649 - pyruvate decarboxylase deficiency

Disease Ontology Definition: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: deficiency of pyruvic dehydrogenase, pyruvate dehydrogenase complex deficiency disease, pyruvate dehydrogenase deficiency

Xenbase Genes : pdp1, pdha1, pdhx, pdhb, dlat

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019169 - pyruvate dehydrogenase deficiency


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): carbohydrate metabolic disorder (is_a)