Term Name: | pyruvate decarboxylase deficiency |
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Synonyms: | deficiency of pyruvic dehydrogenase, pyruvate dehydrogenase complex deficiency disease, pyruvate dehydrogenase deficiency |
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. |
Ontology: | Human Disease [DOID:3649] ( DOID:3649 ) |