primary carnitine deficiency

(redirected from Carnitine uptake deficiency)

primary carnitine deficiency

a rare defect in carnitine metabolism due to a defect in carnitine transport; patients may present with hypoketotic hypoglycemia and develop cardiomyopathy or skeletal muscle weakness.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
CUD is an acronym for "carnitine uptake deficiency"; without carnitine, fats cannot be processed correctly and are not converted into energy.
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