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
