Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. 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.
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| - Carnitine palmitoyltransferase I deficiency (en)
- Déficit en carnitine palmitoyltransférase I (fr)
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| - Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. 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. (en)
- Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des . L’oxydation hépatique des acides gras fournit de l’énergie en cas d’épuisement des réserves en glycogène donc en cas de jeune prolongé. Les manifestations de ce déficit se voient surtout en cas d’augmentation de la demande énergétique :
* Dans l’enfance :encéphalopathie hépatique avec hypoglycémie hypocétonémique
* Myopathie à l’age adulte
* lorsque le fœtus est homozygote pour la mutation. (fr)
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| - Carnitine palmitoyltransferase I deficiency (en)
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| - Carnitine palmitoyltransferase I deficiency (en)
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| - Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. 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. (en)
- Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des . L’oxydation hépatique des acides gras fournit de l’énergie en cas d’épuisement des réserves en glycogène donc en cas de jeune prolongé. Les manifestations de ce déficit se voient surtout en cas d’augmentation de la demande énergétique :
* Dans l’enfance :encéphalopathie hépatique avec hypoglycémie hypocétonémique
* Myopathie à l’age adulte
* lorsque le fœtus est homozygote pour la mutation. Entre les crises de décompensation, l’individu malade a un développement normal sauf en cas de séquelle neurologique des décompensations. (fr)
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