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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
maple syrup urine disease
Summary
- Synonym
-
- Ketoacidaemia
- branched chain ketoaciduria
- Definition
- An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
- Super Class
- organic acidemia
External Links
- Disease Ontology
- DOID:9269
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012758 | Neurodevelopmental delay |
| HP:0001638 | Cardiomyopathy |
| HP:0003128 | Lactic acidosis |
| HP:0000252 | Microcephaly |
| HP:0002013 | Vomiting |
| HP:0007663 | Reduced visual acuity |
| HP:0001254 | Lethargy |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
| HP:0001508 | Failure to thrive |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
