Description

Fatty acid oxidation syndromes are a broad group of disorders caused by defects in the enzymes needed to oxidize fatty acids. This results in an inability to use fatty acids as a source of energy when the level of the primary energy source, glucose, is low during prolonged fasting and periods of higher energy demands. If left untreated, these conditions result in hypoketotic hypoglycemia and a buildup of fatty acids in the internal organs. Hepatomegaly and liver disease may be present during acute episodes which can progress to coma and death. Other symptoms may include intellectual disability, seizures, hypotonia and feeding difficulties. Once diagnosed, the prognosis is excellent if dietary recommendations are followed. Specific deficiencies within the broader group of fatty acid oxidation syndromes are each caused by mutations in one specific gene. Mutations in these causative genes therefore often explain a very high percentage of each deficiency. Typically these numbers are 95%-100%. The estimated combined prevalence for fatty acid oxidative deficiencies is 1-2:10 000 newborns. The most common of these diseases is medium-chain-acyl-CoA dehydrogenase (MCAD) deficiency caused by mutation in ACADM gene.