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pyruvate decarboxylase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:3649
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002317 | Unsteady gait |
| HP:0002416 | Subependymal cysts |
| HP:0002510 | Spastic tetraplegia |
| HP:0003577 | Congenital onset |
| HP:0003828 | Variable expressivity |
| HP:0007010 | Poor fine motor coordination |
| HP:0007015 | Poor gross motor coordination |
| HP:0001987 | Hyperammonemia |
| HP:0001265 | Hyporeflexia |
