RT Journal Article
SR Electronic
T1 Carnitine palmityl transferase I deficiency
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1025
OP 1029
VO 22
IS 11
A1 Aida I. Al-Aqeel
A1 Mohammed S. Rashed
A1 Jos P. Ruiter
A1 Hussa F. Al-Husseini
A1 Mohammed S. Al-Amoudi
A1 Ronald J. Wanders
YR 2001
UL http://smj.org.sa/content/22/11/1025.abstract
AB 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.