Short-chain acyl CoA deficiency (SCAD) is an autosomal recessive disorder of fatty acid beta-oxidation. Affected individuals can have variable presentations ranging from acidosis and neurological impairment to merely myopathy. Some patients may have vomiting, hypoglycemia and microcephaly. The symptoms may be triggered by viral infections and may present in adulthood. Management includes avoidance of fasting, and following a diet low in fat and high in carbohydrates. Medications include L-carnitine and Riboflavin.
Mikati et al, 2007, studied a non-consanguineous, Lebanese-Spanish girl with SCAD deficiency. She presented with infantile spasms (starting at 3.5 months of age) and brain malformations (Partial agenesis of the corpus callosum, abnormal cortical gyration and a small midline frontal meningocele).
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. Almost all patients were born to consanguineous parents. Fatty acid oxidation disorders were diagnosed in 18/248 patients (7%) who presented with enzymatic deficiency. Among them, four cases from two families were found to have SCAD deficiency. The estimated incidence of this condition was 2 in 100,000 live births.