primary carnitine deficiency

(redirected from Carnitine transporter 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 ?
Sudden neonatal death in carnitine transporter deficiency.
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