systemic carnitine deficiency

Related Overviews


More Like This

Show all results sharing this subject:

  • Medicine and Health


Quick Reference

A disorder in which there are low carnitine concentrations in tissues other than muscle, caused by mutations in the SLC22A5 gene which encodes OctN2, leading to increased urinary losses of carnitine. Myopathic carnitine deficiency is caused by mutation in a different locus and the carnitine deficiency is restricted to muscle.

Subjects: Medicine and Health.

Reference entries