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