Case Report

JIMD Reports - Case and Research Reports, 2012/4

Volume 7 of the series JIMD Reports pp 63-66

Date:

Autism Spectrum Disorder in a Child with Propionic Acidemia

  • M. Al-OwainAffiliated withDepartment of Medical Genetics, King Faisal Specialist Hospital and Research CentreCollege of Medicine, Alfaisal University Email author 
  • , N. KayaAffiliated withDepartment of Genetics, King Faisal Specialist Hospital and Research Centre
  • , H. Al-ShamraniAffiliated withDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre
  • , A. Al-BakheetAffiliated withDepartment of Genetics, King Faisal Specialist Hospital and Research Centre
  • , A. QariAffiliated withDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre
  • , S. Al-MuaiglAffiliated withDepartment of Nutrition, King Faisal Specialist Hospital and Research Centre
  • , M. GhaziuddinAffiliated withDepartment of Psychiatry, King Faisal Specialist Hospital and Research Centre

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Abstract

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.