primary carnitine deficiency


Also found in: Wikipedia.

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.
References in periodicals archive ?
and a good man, to obtain two FDA approvals - Primary Carnitine Deficiency, a fatal disease in children and for patients undergoing renal dialysis.
Getting back to carnitine as a cause of atherosclerosis, children with Primary Carnitine Deficiency experience life-threatening heart failure which is reversed by L-carnitine which restores its cardiac levels.
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts.
Expanded newborn screening identifies maternal primary carnitine deficiency.
Whereas primary carnitine deficiency is attributable to mutations in OCTN2 [a carnitine transporter of plasma membranes (3)], several other conditions can cause secondary deficiency (4).
However, primary carnitine deficiency, which is due to decreased synthesis of carnitine in the body or altered transport of carnitine across the cellular membrane, can occur in people of all ages.
Presumptive positive results were reported as carnitine deficiency attributable to an uptake disorder, as primary carnitine deficiency, or as secondary carnitine deficiency attributable to a metabolic disorder that causes depletion of carnitine and affects our ability to find abnormal increases of acylcarnitines.