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
• MESH:D015325
• MIM:245348
• MIM:245349
• MIM:312170
• MIM:608782
• MIM:614111
• NCI:C103968
• ORDO:79243
• SNOMEDCT_US_2023_03_01:46683007
• UMLS_CUI:C0034345

Ontology

Human Disease   ( DOID:3649 )