primary carnitine deficiency


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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 ?
Primary carnitine deficiency is a gene mutation in SLC22A5, an autosomal recessive gene.
Approximately half of the patients of Primary Carnitine Deficiency present around the age of 2 years (range: 3 months--2.
This condition might be a result of secondary carnitine deficiency owing to defect in Carnitine Acyl Transferase-I, II or translocase enzyme, instead of primary carnitine deficiency which presents with severe form.
Carnitine uptake into tissues and cells occurs by a saturable sodium-dependent transport mechanism (21), and a failure of its transport mechanism leads to systemic or primary carnitine deficiency associated with low levels of free and total carnitine in tissues and plasma.
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts.
Expanded newborn screening identifies maternal primary carnitine deficiency.
Carnitine uptake into tissues and cells occurs by a saturable sodium-dependent transport mechanism (32), and a failure of its transport mechanism leads to systemic or primary carnitine deficiency associated with low levels of free and total carnitine in tissues and plasma.
In the case of primary carnitine deficiency, the only symptom may be heart failure; however, this disorder responds well to carnitine supplementation.
Primary carnitine deficiency can often be treated successfully with carnitine supplements.
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).
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.