Cases of inborn errors of metabolism diagnosed in children with autism

Autism spectrum disorder is a neurodevelopmental with heterogeneous presentation, the etiology of which not clearly elucidated. In recent years, comorbidity has become more evident increase in frequency autism and diagnostic possibilities inborn errors metabolism. One hundred seventy-nine patients diagnosis who presented to Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted study population. The personal information, routine specific metabolic tests were analyzed retrospectively. Out 3261 our clinic, 179 (5.48%) diagnosed included study. As result examinations performed, 6 (3.3%) Two classical phenylketonuria, two homocystinuria, one mucopolysaccharidosis type 3D (Sanfilippo syndrome) 3-methylchrotonyl Co-A carboxylase deficiency. Inborn metabolism may rarely present symptoms. Careful evaluation history, physical examination additional findings will guide clinician decision-making process chose appropriate investigation. An underlying be treatable cause autism.