# maple syrup urine disease

> human disease

**Wikidata**: [Q402575](https://www.wikidata.org/wiki/Q402575)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Maple_syrup_urine_disease)  
**Source**: https://4ort.xyz/entity/maple-syrup-urine-disease


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/m.htm)
5. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
6. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient
7. Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1
8. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease
9. Source
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)