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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:0002268 | Paroxysmal dystonia |
| HP:0002355 | Difficulty walking |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus |
| HP:0003487 | Babinski sign |
| HP:0004302 | Functional motor deficit |
| HP:0005656 | Positional foot deformity |
| HP:0007994 | Peripheral visual field loss |
| HP:0011098 | Speech apraxia |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
