Abstract 786

CPT-I catalyzes the first reaction in the transport of the long chain fatty acids from the cytoplasm to the mitochondrion, a rate limiting step in beta-oxidation. We report a family of three affected siblings who are the product of the first degree cousin marriage. The first two presented with typical Reye-like syndrome with unconsciousness, hepatomegaly, hypoglycemia, hyperammonemia and very high liver enzymes. Liver biopsy showed steatosis. On screening the whole family, the third sibling was found to have hepatomegaly. The three siblings showed an acyl carnitine profile with very high free carnitine with almost absent long-chain acyl carnitines, which is suggestive of CPT-1 deficiency, which was confirmed with enzyme studies. In conclusion, CPT-I deficiency is an important cause of Reye-like syndrome.

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