Search Ontology:
Human Disease
pyruvate decarboxylase deficiency
- Term ID
- DOID:3649
- 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. (3)
- References
-
- GARD:4620
- GARD:7513
- ICD10CM:E74.4
- Ontology
- Human Disease ( DOID:3649 )
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Genes Involved
Zebrafish Models