TY - JOUR T1 - Carnitine palmityl transferase I deficiency JF - Saudi Medical Journal JO - Saudi Med J SP - 1025 LP - 1029 VL - 22 IS - 11 AU - Aida I. Al-Aqeel AU - Mohammed S. Rashed AU - Jos P. Ruiter AU - Hussa F. Al-Husseini AU - Mohammed S. Al-Amoudi AU - Ronald J. Wanders Y1 - 2001/11/01 UR - http://smj.org.sa/content/22/11/1025.abstract N2 - 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 with unconsciousness, hepatomegaly, hypoglycemia, hyperammonemia and very high liver enzymes. Liver biopsy showed steatosis. On screening of the complete family, the 3rd sibling was found to have hepatomegaly. The 3 siblings showed an acyl carnitine profile with very high free carnitine with almost absent long chain acyl carnitines, suggestive of carnitine palmityl transferase I deficiency. This was confirmed by enzyme analyses in fibroblast cultures. These patients were effectively treated with a diet high in carbohydrate, low in long chain fatty acids with medium chain triglycerides. In conclusion, carnitine palmityl transferase I deficiency is an important cause of Reye-like syndrome, which may be treated easily with very good results if detected early in life. ER -