Carnitine palmitoyltransferase I deficiency

Definition:

Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria. Defects in the liver isoform of CPT1 (CPT1A) present with recurrent attacks of fasting hypoketotic hypoglycemia.

References:

[1]. Nicola Longo, et al. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. [Content Brief]

[2]. Stéphanie Gobin, et al. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet. 2002 Aug;111(2):179-89. [Content Brief]

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