Primary carnitine deficiency is a genetic disorder in which the body is unable to metabolise fatty acids due to dysfunction or deficiency of carnitine transporter. The disease may be triggered by periods of fasting or viral infections when the energy demand of the body is very high. Carnitine transporters are proteins that play a critical role in maintaining optimal levels of carnitine, which is essential for energy production through effective transportation of fatty acids into mitochondrial matrix. The signs and symptoms associated with primary carnitine deficiency are encephalopathy, cardiomyopathy, confusion, vomiting, myopathy, and hypoglycemia. In acute cases, complications such as heart failure, liver problems, coma, and sudden unexpected death can occur.
Homozygous or compound heterozygous mutation in the SLC22A5 gene (Solute Carrier Family 22 Member 5) is associated with primary carnitine deficiency.
Lindner et al. (2007) conducted a study to establish the prevalence of inborn errors of metabolism and endocrine disorders in children who were screened as part of the newborn screening program in Qatar (December 2003-July 2006). Of the 25214 newborns screened, one child was born with systemic carnitine deficiency.
Moammar et al. (2010) estimated the incidence of carnitine uptake defect as 1 in 100,000 live births in Saudi Arabia. This study was based on 165530 Saudi infants born during the period of 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia.
Al-Shamsi et al. (2014) reported the estimated prevalence of carnitine deficiency to be lower than 0.98 per 100,000 live births among Emiratis in the UAE. This estimate was based on a study that included all patients diagnosed with IEMs at Tawam Hospital Metabolic Center in Abu Dhabi between January 1995 and May 2013.