# Lipoyl transferase 1 deficiency

> human disease

**Wikidata**: [Q55784889](https://www.wikidata.org/wiki/Q55784889)  
**Source**: https://4ort.xyz/entity/lipoyl-transferase-1-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144182/MONDO_0014576)