Moravej, HosseinInaloo, SoroorNahid, SamanMazloumi, ShokrollahNemati, HamidMoosavian, ToktamNasiri, JafarGhasemi, FaribaAlaei, Mohammad RezaDalili, SetilaAminzadeh, MajidKatibeh, PegahAmirhakimi, AnisYazdani, NegarIlkhanipoor, HomaAfshar, ZhilaHadipour, FatemehHadipour, Zahra2023-08-252023-08-252023-03Moravej Hossein, Inaloo Soroor, Nahid Saman, Mazloumi Shokrollah, Nemati Hamid, Moosavian Toktam, Nasiri Jafar, Ghasemi Fariba, Alaei Mohammad Reza, Dalili Setila, Aminzadeh Majid, Katibeh Pegah, Amirhakimi Anis, Yazdani Negar, Ilkhanipoor Homa, Afshar Zhila, Hadipour Fatemeh, Hadipour Zahra. Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran. Indian Pediatrics. 2023 Mar; 60(3): 193-1960079-60610974-7559http://imsear.searo.who.int/handle/123456789/225393Objective: This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder. Methods: In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guanidinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed. Other data, including age, parental consanguinity, history of seizure, developmental mile-stones, and physical examination, were also recorded. Results: An inborn error of metabolism was found in 13 (12.4%) patients. Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association between positive metabolic evaluation and parental consanguinity, history of seizures, microcephaly, and delayed development. Conclusions: Our results suggest that metabolic screening should be performed in the cases of autism associated with parental consanguinity, developmental delay, and a history of seizures. The assays to be considered as a screening panel include plasma or blood amino acids, acylcarnitines, creatine and guanidinoacetate, and urinary levels of organic acids.Cerebral creatine deficiency syndromeDiagnosisGAMT deficiencyScreening.Journal ArticleIndiaNeonatal Research Center, Shiraz University of Medical Sciences, Shiraz, IranDepartment of Pediatric Endocrinology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IranDepartment of Biochemical Genetics, Farzanegan Lab, Shiraz, IranEpilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, IranShiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranDepartment of Pediatric Neurology, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranChild Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, IranDepartment of Pediatric Endocrinology and Metabolism, Iran University of Medical Sciences, Institute of Endocrinology and Metabolism Research Center, Tehran, IranPediatric Endocrinology and Metabolism, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranPediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, IranPediatric Endocrinology and Metabolism, Pediatric Department, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IranDepartment of Pediatric Neurology, Shiraz University of Medical Sciences, Shiraz, IranDepartment of Clinical Genetics, Atieh Hospital, Tehran, Iran.