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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:0007772 | Impaired smooth pursuit |
| HP:0012758 | Neurodevelopmental delay |
| HP:0200012 | Short corpus callosum |
| HP:0000252 | Microcephaly |
| HP:0001263 | Global developmental delay |
| HP:0001264 | Spastic diplegia |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001508 | Failure to thrive |
| HP:0002059 | Cerebral atrophy |
