Carnitine-acylcarnitine translocase deficiency

From Ganfyd

Jump to: navigation, search
Web Resources for Carnitine-acylcarnitine translocase deficiency


Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis

Genetic deficiency of carnitine acylcarnitine translocase often manifests as nonketotic hypoglycaemia in early infant life. Cardiomyopathy, muscle weakness and lifethreatening coma are likely to occur, depending upon the mutation.