Abstract
Autism spectrum disorder is a clinically heterogeneous entity with no known specific cause. A variety of inborn errors of metabolism include autistic-like phenotypes in their clinical manifestations. As targeted therapies for many of these errors exist, a question arises whether a routine metabolic screening in all children with autism should be performed. According to current literature, a metabolic workup should not be considered in children with nonsyndromic autism as a first-line investigation. However, detailed cost–benefit analyses are needed to investigate the benefit of a targeted screening of treatable metabolic errors compared with the total financial burden of autism.
Keywords
autism - inborn errors of metabolism - metabolic screening
