Objective:

The aim of this study is to evaluate the presence of inherited metabolic disordes and metabolic dysfunction and also biomarkers of nutritional status in pediatric patients with autism spectrum disorders.

Method:

Biochemical and metabolic screening analyzes of 239ASD diagnosed children who were admitted to the Pediatric Metabolic Diseases Outpatient Clinic in Bakırköy Dr. Sadi Konuk Training and Research Hospital between October 2014 and November 2017, were evaluated rectospectively. ASD diagnosis were done according to DSM-5 (APA, 2013) criteria.

Results:

The mean age of the participants was 56±34 months (19 -168 months), and 77.4% of them were male. IMD was present in 3,4% (n: 8) which those were two mitochondrial diseases and the one each hyperprolinemia type 1(HPI-1), guanidinoacetatemethyltransferase (GAMT) deficiency, mild phenylketonuria, 3-methyl crotonyl CoA carboxylase deficiency (3-MCC), middle-chain fatty acid oxidation defect (MCAD), classic type homocystinuria (cystathionine β-synthase deficiency). Mitochondrial dysfunction sign was present in % 5,4 (n: 13) of ASD cases. VitB12 level was high in 38% (n: 79) and low in 1% (n: 2) of all patients. The 25-OH vitamin D level was in normal range in 28.5% (n: 55) and high in 71.5% (138) of cases. Folate level was high in 8.2% (n: 17) of cases and no participant had low levels of folate.

Conclusion:

Evaluation of patients’ metabolic profiles and nutrient levels with a standard panel in autism spectrum disorders will provide recognition of treatable metabolic diseases and acquired metabolic disorders.

Keywords: Autism spectrum disorders, inherited metabolic disorders, nutrition