Autism Spectrum Disorder in a Child with Propionic Acidemia

  • M. Al-OwainEmail author
  • N. Kaya
  • H. Al-Shamrani
  • A. Al-Bakheet
  • A. Qari
  • S. Al-Muaigl
  • M. Ghaziuddin
Case Report
Part of the JIMD Reports book series (JIMD, volume 7)


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.


Autism Spectrum Disorder Intellectual Disability Social Communication Questionnaire FMR1 Gene Urea Cycle Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Propionic acidaemia


Propionic acid


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.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • M. Al-Owain
    • 1
    • 6
    Email author
  • N. Kaya
    • 2
  • H. Al-Shamrani
    • 3
  • A. Al-Bakheet
    • 2
  • A. Qari
    • 1
  • S. Al-Muaigl
    • 4
  • M. Ghaziuddin
    • 5
  1. 1.Department of Medical GeneticsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  2. 2.Department of GeneticsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  3. 3.Department of PediatricsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  4. 4.Department of NutritionKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  5. 5.Department of PsychiatryKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  6. 6.College of MedicineAlfaisal UniversityRiyadhSaudi Arabia

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