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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:0001254 | Lethargy |
| HP:0001290 | Generalized hypotonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001942 | Metabolic acidosis |
| HP:0002007 | Frontal bossing |
| HP:0002131 | Episodic ataxia |
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0002878 | Respiratory failure |
