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,

Echinobase Genes : pdhx, LOC752050, pdhb, dlat


OMIM:

MIM:245348 - pyruvate dehydrogenase e2 deficiency; pdhdd

MIM:245349 - pyruvate dehydrogenase e3-binding protein deficiency; pdhxd

MIM:312170 - pyruvate dehydrogenase e1-alpha deficiency; pdhad

MIM:608782 - pyruvate dehydrogenase phosphatase deficiency; pdhpd

MIM:614111 - pyruvate dehydrogenase e1-beta deficiency; pdhbd

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee