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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 |
|---|---|---|---|
| 1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
| 5091 | PC | pyruvate carboxylase | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5161 | PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 | |
| 5162 | PDHB | pyruvate dehydrogenase E1 subunit beta | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 54704 | PDP1 | pyruvate dehydrogenase phosphatase catalytic subunit 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18597 | Pdha1 | pyruvate dehydrogenase E1 alpha 1 | |
| 18598 | Pdha2 | pyruvate dehydrogenase E1 alpha 2 | |
| 27402 | Pdhx | pyruvate dehydrogenase complex, component X | |
| 68263 | Pdhb | pyruvate dehydrogenase (lipoamide) beta | |
| 235339 | Dlat | dihydrolipoamide S-acetyltransferase |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 25104 | Pc | pyruvate carboxylase | |
| 29554 | Pdha1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 81654 | Dlat | dihydrolipoamide S-acetyltransferase | |
| 117098 | Pdha2 | pyruvate dehydrogenase E1 subunit alpha 2 | |
| 289950 | Pdhb | pyruvate dehydrogenase E1 subunit beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100503 | Decreased circulating vitamin B1 concentration |
| HP:0001263 | Global developmental delay |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus |
| HP:0000252 | Microcephaly |
| HP:0001276 | Hypertonia |
| HP:0003487 | Babinski sign |
| HP:0000496 | Abnormality of eye movement |
| HP:0010864 | Intellectual disability, severe |
| HP:0000726 | Dementia |
| HP:0002268 | Paroxysmal dystonia |
