Case report of a boy with autism spectrum disorder and lysinuric protein intolerance

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an increasing prevalence. Genetic factors play an important role in the etiology of ASD, and researchers and clinicians have shown increasing interest in understanding the underlying genetic mechanisms of ASD. This report describes a case of lysinuric protein intolerance (LPI), a rarely reported metabolic/genetic syndrome associated with ASD. LPI is an autosomal recessive disorder, and pathogenic variants in the responsible gene, solute carrier family 7 member 7 ( SLC7A7 ), have been identified. Although there are studies suggesting that the SLC7A7 gene is involved in the etiology of ASD, the literature review did not identify any case reports of concurrent diagnoses of ASD and LPI. This report presents the case of a 10-year-old who was diagnosed with both ASD and LPI. This case report aims to contribute to the literature on the genetic underpinnings of ASD by highlighting its potential association with LPI.