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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 593 | BCKDHA | branched chain keto acid dehydrogenase E1 subunit alpha | |
| 594 | BCKDHB | branched chain keto acid dehydrogenase E1 subunit beta | |
| 1629 | DBT | dihydrolipoamide branched chain transacylase E2 | |
| 1727 | CYB5R3 | cytochrome b5 reductase 3 | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 4023 | LPL | lipoprotein lipase | |
| 7369 | UMOD | uromodulin | |
| 9254 | CACNA2D2 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002480 | Hepatic encephalopathy |
| HP:0001399 | Hepatic failure |
| HP:0011968 | Feeding difficulties |
| HP:0001251 | Ataxia |
| HP:0003394 | Muscle spasm |
| HP:0001987 | Hyperammonemia |
| HP:0000708 | Atypical behavior |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0008344 | Elevated circulating branched chain amino acid concentration |
| HP:0001257 | Spasticity |
