Inborn defects of fatty acid oxidation: a preventable cause of SIDS

Abstract

Inborn errors of fatty acid oxidation, including medium chain acyl CoA dehydrogenase (MCAD) deficiency are readily detectable and treatable metabolic disorders in which recognition of symptoms is important. Symptoms occur when there is fasting, often associated with illness. If not diagnosed, these inborn errors of metabolism can result in sudden death classified as SIDS. These disorders can be diagnosed by ordering plasma or blood spot acylcarnitine profiles.