Carnitine-acylcarnitine translocase deficiency
From Ganfyd
Web Resources for Carnitine-acylcarnitine translocase deficiency
Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Carnitine-acylcarnitine translocase deficiency (Less technical, good quality control)
Wikipedia on Carnitine-acylcarnitine translocase deficiency (Less technical, ? quality control)
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.
