Article
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
Human genetics - 1 Jan 2000
Vaz F M, Scholte H R, Ruiter J, Hussaarts-Odijk L M, Pereira R R, Schweitzer S, de Klerk J B, Waterham H R, Wanders R J
Abstract excerpt
Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia, hyperammonemia, and failure to thrive. This form of carnitine deficiency is caused by a defect in the active cellular uptake of carnitine, and the gene encoding the high affinity carnitine transporter OCTN2 has recently been shown to be...
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