Name: pyruvate decarboxylase deficiency
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:3649 pyruvate decarboxylase deficiency 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. 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.

Synonyms

deficiency of pyruvic dehydrogenase
pyruvate dehydrogenase complex deficiency disease

Cross References

Parent Terms

carbohydrate metabolic disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Models

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