# systemic primary carnitine deficiency

> amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy

**Wikidata**: [Q3358135](https://www.wikidata.org/wiki/Q3358135)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Systemic_primary_carnitine_deficiency)  
**Source**: https://4ort.xyz/entity/systemic-primary-carnitine-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/2beee8a9-193c-41ca-92c4-484c8e034b02--2018-04-24T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2beee8a9-193c-41ca-92c4-484c8e034b02-2018-04-24T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197375/MONDO_0008919)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197375/Orphanet_158)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)