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.
Competing interests: None declared
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Abbreviations
- PA:
-
Propionic acidaemia
- PPA:
-
Propionic acid
- ASD:
-
Autism spectrum disorder
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Acknowledgments
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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Communicated by: Ivo Barić
Appendices
Synopsis
First report of Autism in propionic acidemia.
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None declared.
References to Electronic Databases
Propionic acidaemia: OMIM 606054.
Propionyl-CoA carboxylase: EC 6.4.1.3.
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Al-Owain, M. et al. (2012). Autism Spectrum Disorder in a Child with Propionic Acidemia. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_143
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DOI: https://doi.org/10.1007/8904_2012_143
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