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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1636 | ACE | angiotensin I converting enzyme | |
| 1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 4967 | OGDH | oxoglutarate dehydrogenase | |
| 5091 | PC | pyruvate carboxylase | |
| 5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
| 5106 | PCK2 | phosphoenolpyruvate carboxykinase 2, mitochondrial | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5161 | PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16822 | Phosphoenolpyruvate carboxykinase [GTP], mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0000657 | Oculomotor apraxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001266 | Choreoathetosis |
| HP:0001270 | Motor delay |
| HP:0001319 | Neonatal hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0001348 | Brisk reflexes |
| HP:0002194 | Delayed gross motor development |
| HP:0002307 | Drooling |
