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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35855 | Branched-chain-amino-acid aminotransferase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007663 | Reduced visual acuity |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0010913 | Hyperisoleucinemia |
| HP:0001251 | Ataxia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001638 | Cardiomyopathy |
| HP:0001399 | Hepatic failure |
| HP:0000252 | Microcephaly |
| HP:0002240 | Hepatomegaly |
| HP:0001987 | Hyperammonemia |
