Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by lack of social interaction, limited areas of interest, and repetitive behaviors. Comprehensive screening studies have shown that the prevalence of ASD is increasing. Arginase deficiency is an autosomal recessive metabolic disorder that affects the last step of the urea cycle. In this report, clinical features, neurological findings and genetic analysis results of an 11-year-old boy diagnosed with ASD have been discussed. Additionally, accompanying late diagnosed arginase deficiency has been also highlighted. In addition to the coexistence of ASD and metabolic diseases, the importance of early diagnosis and treatment in such cases has been emphasized.