JIMD Reports - Case and Research Reports, 2012/4

M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet, A. Qari, S. Al-Muaigl, M. Ghaziuddin, Al-Owain, M., Kaya, N., Al-Shamrani, H., Al-Bakheet, A., Qari, A., Al-Muaigl, S., Ghaziuddin, M.

Autism is a neurodevelopmental disorder characterized by a combination of reciprocal social deficits, communication impairment, and rigid ritualistic interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions in at least 10% of cases. Although uncommon, cases of autism have also been reported in association with metabolic disorders. In this brief report, we describe the occurrence of autism in a 7-year-old girl with propionic acidemia (PA), a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase and characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. It is particularly common in countries with high rates of consanguinity. Early diagnosis of autism in patients with metabolic disorders is important since autistic features are sometimes the most disruptive of all the child's problems. This facilitates providing the needed behavioral services not otherwise available for children with metabolic disorders.