Autism Spectrum Disorder in a Child with Propionic Acidemia
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.
KeywordsAutism Spectrum Disorder Intellectual Disability Social Communication Questionnaire FMR1 Gene Urea Cycle Disorder
Autism spectrum disorder
We are grateful to the patient and her family for participation in this study. In addition, we thank Dr. Derrick MacFabe and Dr. V. Reid Sutton for their scientific contributions.
- American Psychiatric Association (2000) Diagnostic and statistical manual of mental disorders, Fourth edition, text revisionth edn. APA, Washington, DCGoogle Scholar
- Centers for Disease Control and Prevention (2007) Autism spectrum disorders overview. http://www.cdc.gov/ncbddd/autism/overview.htm. Retrieved 03 April 2009
- Rutter M, Berument S, Lord C, Pickles A (2003) Social and Communication Questionnaire (SCQ), lifetime version. Western Psychological Services, Los AngelesGoogle Scholar
- Shams S, Kavaliers M, Foley KA et al (2009) Social deficits, anxiety-like behavior and hypoactivity following systemic administration of propionic acid in juvenile rats. Abstract [#436.6]. Society for Neuroscience, ChicagoGoogle Scholar
- Shultz SR, Macfabe DF, Martin S et al (2009) Intracerebroventricular injections of the enteric bacterial metabolic product propionic acid impair cognition and sensorimotor ability in the Long-Evans rat: further development of a rodent model of autism. Behav Brain Res 200:33–41PubMedCrossRefGoogle Scholar