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
Ontology
Human Disease   ( DOID:3649 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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