Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme

In the investigation of autism spectrum disorders (ASD), a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD) is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID). In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD.