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MIRAGE
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
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5162 | PDHB | pyruvate dehydrogenase E1 subunit beta | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 54704 | PDP1 | pyruvate dehydrogenase phosphatase catalytic subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26284 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002134 | Abnormal basal ganglia morphology |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002273 | Tetraparesis |
| HP:0002363 | Abnormal brainstem morphology |
| HP:0002490 | Increased CSF lactate |
| HP:0008936 | Axial hypotonia |
| HP:0010864 | Intellectual disability, severe |
| HP:0010915 | Abnormal circulating pyruvate family amino acid concentration |
| HP:0000618 | Blindness |
| HP:0000707 | Abnormality of the nervous system |
