Carnitine-acylcarnitine translocase deficiency
Definition:
Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.
References:
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[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]. Takao Fukushima, et al. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. J Hum Genet. 2013 Dec;58(12):788-93. [Content Brief]
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