Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) is a rare autosomal recessive disorder that prevents the body from using fat for energy during fasting. It presents during infancy or early childhood, and is characterized by hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly. There are three forms of LCHAD: the severe neonatal form, fatal with cardiac involvement; the infancy onset milder form with hepatic presentation; and the later-onset form with neuromyopathyic phenotype. LCHAD is usually severe and may lead to death due to heart, respiratory or liver failure.
The diagnosis of LCHAD is based on measuring the enzymatic activity or identifying the G1528C mutation in order to differentiate between the LCHAD deficiency from trifunctional protein deficiency. The treatments for LCHAD deficiency include frequent feedings, a diet consisting of long-chain fatty acid restriction, high carbohydrate content, MCT oil, carnitine, essential fatty acid and multivitamin supplementation.