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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
Related Glycoprotein
- 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 |
