Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase I deficiency
Other namesCPT-I, CPT1
Carnitine

Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids(LCFA) into energy, particularly during periods without food.[1] It is caused by a mutation in CPT1A on chromosome 11.[citation needed]

Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.[citation needed]

  1. ^ Bennett, Michael J.; Santani, Avni B. (1993-01-01). "Carnitine Palmitoyltransferase 1A Deficiency". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301700.update 2010