# carnitine palmitoyltransferase II deficiency

> lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria

**Wikidata**: [Q2033861](https://www.wikidata.org/wiki/Q2033861)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency)  
**Source**: https://4ort.xyz/entity/carnitine-palmitoyltransferase-ii-deficiency


## References

1. Disease Ontology
2. Antenatal presentation of carnitine palmitoyltransferase II deficiency
3. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
4. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)