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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:0100503 | Decreased circulating vitamin B1 concentration |
| HP:0000618 | Blindness |
| HP:0000954 | Single transverse palmar crease |
| HP:0001332 | Dystonia |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001371 | Flexion contracture |
| HP:0001518 | Small for gestational age |
| HP:0001629 | Ventricular septal defect |
| HP:0001761 | Pes cavus |
| HP:0001883 | Talipes |
