Inborn Errors of Metabolism and Autism Spectrum Disorders - Experience At a Tertiary Care Center

Abstract

Aims & Objectives: Recently the diagnosis and treatment of inborn errors of metabolism have improved substantially. Metabolic disorders are individually rare, together they constitute a significant percentage of autism children presenting with acute problems. The aim of our study was to perform diagnosis and assessment of inborn errors of metabolism for autism spectrum disorders. Methods: One fifty two patients were referred for clinical and metabolic assessment. Ninety patients were subjected to a metabolic work up depending on the provisional diagnosis. Results: A variety of metabolic disorders were diagnosed in patients presented with signs and symptoms. The diagnosis was confirmed in 15% of patients with age range between 3 years to 12 years. Conclusion: This study addresses background information, and possible diagnostic tools of children with autism spectrum disorders, and the need for future research was aimed at understanding the relations among autism and neurometabolic disorders.