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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16822 | Phosphoenolpyruvate carboxykinase [GTP], mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003348 | Hyperalaninemia |
| HP:0004900 | Severe lactic acidosis |
| HP:0004925 | Chronic lactic acidosis |
| HP:0000218 | High palate |
| HP:0000243 | Trigonocephaly |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000648 | Optic atrophy |
| HP:0000767 | Pectus excavatum |
| HP:0001258 | Spastic paraplegia |
