# Leigh disease

> mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity

**Wikidata**: [Q1815019](https://www.wikidata.org/wiki/Q1815019)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Leigh_syndrome)  
**Source**: https://4ort.xyz/entity/leigh-disease


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. UniProt
4. DisGeNET
5. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
6. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
7. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
8. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
9. NDUFA2 complex I mutation leads to Leigh disease
10. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
11. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
12. Human mitochondrial complex I in health and disease
13. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
14. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
15. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
16. [Identifiers.org](https://registry.identifiers.org/registry/doid)
17. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)