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.
Al-Riyami et al. (2012) reported on the types and patterns of IEMs encountered in a sample of 1100 high-risk neonates referred to SQU Hospital in Oman over a 10-year period (1998-2002). MS/MS was used to analyze blood samples from heel pricks. A total of 119 of these neonates were found to test positive for an IEM. LCHAD was detected in a single male neonate. The patient was born to consanguineous parents and had a family history of the condition.
Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. Fatty acid oxidation disorders were diagnosed in 18/248 patients (7%) who showed relevant enzymatic deficiencies. The diagnosis was confirmed in all fatty acid oxidation disorders by measuring enzymatic activity in blood or skin fibroblasts. Only a single case was found to have LCHAD deficiency. The estimated incidence of this condition is 1 in 100,000 live births. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, there is an urgent need for centralized newborn screening program that utilizes tandem mass spectrometry, and offers genetic counseling for these families.