Article
Carnitine palmityl transferase I deficiency.
Saudi medical journal - 1 Nov 2001
Al-Aqeel A I, Rashed M S, Ruiter J P, Al-Husseini H F, Al-Amoudi M S, Wanders R J
Abstract excerpt
Carnitine palmityl transferase I is the key enzyme in the carnitine dependent transport of long chain fatty acids across the mitochondrial inner membrane and its deficiency results in a decrease rate of fatty acids beta-oxidation with decreased energy production. We reported a family of 3 affected siblings who are the product of a first degree cousin marriage. The first 2 presented with typical Reye-like syndrome...
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