carnitine palmitoyltransferase I deficiency

carnitine palmitoyltransferase I deficiency
a rare autosomal recessive disorder caused by mutations in the CPT1A gene (locus: 11q13), which encodes carnitine palmitoyltransferase IA. It is characterized by severe episodes of hypoketotic hypoglycemia, hepatomegaly, and encephalopathy, usually occurring after fasting or illness; onset is in infancy or early childhood.

Medical dictionary. 2011.

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