Autistic feature as a presentation of inborn errors of metabolism

Ahmadabadi, F. and Nemati, H. and Abdolmohammadzadeh, A. and Ahadi, A. (2020) Autistic feature as a presentation of inborn errors of metabolism. Iranian Journal of Child Neurology, 14 (4). pp. 17-28.

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Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders characterized by social and communication impairment and restricted or repetitive behaviors. The pathogenesis of ASD is not well understood and it�s proved that genetic is strongly associated with ASD in 5 to 25 of cases. Inborn errors of metabolism(IEMs), defined by a vast array of disorders that are caused by specific enzyme deficiencies or transport protein defects, is as frequent as in 1 in 800 births. IEMs can manifest several psychiatric or behavioral manifestations such as self-injuries-increased activity and aggression, personality changes, paranoia, depression, catatonia, and psychosis. IEMs underlie autistic symptoms in less than 5 of cases. The literature on the association between ASD and respiratory chain abnormalities is growing, including complex III/IV deficiency and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, as well as glucose-6-phosphate dehydrogenase deficiency. Google Scholar, Pubmed, and SCOPUS databases were searched using a combination of the following keywords: �autism spectrum disorder�, �autism spectrum�, �autistic feature� and �inborn error of metabolism�, � IEM�, �congenital error of metabolism�. Initially, 655 articles were found and our expert and methodologist altogether selected 187 articles based on the titles, relevance, and text language. After reading full texts, 37 studies were selected for review. We think it�s best to consider IEMs in children with syndromic ASD and/or if there is a strong familial history of autism or parental consanguineous marriage. © 2020, Iranian Child Neurology Society. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: ademetionine; adenosylhomocysteinase; betaine; carnitine; creatinine; cyanocobalamin; cysteine; dopamine; glutamine; glutathione; guanidinoacetic acid; homocysteine; long chain acyl coenzyme A dehydrogenase; methionine; noradrenalin; phenylalanine; pyridoxine; serotonin; testosterone; tetrahydrofolic acid, acidemia; Alzheimer disease; amino acid metabolism; Article; Asperger syndrome; attention deficit disorder; autism; cerebellar ataxia; cerebrovascular accident; cholesterol metabolism; consanguineous marriage; depression; developmental delay; disorders of mitochondrial functions; dysarthria; dystonia; epilepsy; female; fragile X syndrome; glucose 6 phosphate dehydrogenase deficiency; human; hyperandrogenism; inborn error of metabolism; lactic acidosis; language disability; macrocephaly; male; MELAS syndrome; mental disease; microcephaly; mild cognitive impairment; mitochondrial encephalopathy; motor retardation; mucopolysaccharidosis; muscle hypotonia; muscle weakness; ovary polycystic disease; paranoia; Parkinson disease; phenylketonuria; psychosis; Sanfilippo syndrome; schizophrenia; seizure; Smith Lemli Opitz syndrome; systematic review
Subjects: WM Psychiatry
Depositing User: eprints admin
Date Deposited: 16 Jun 2021 06:16
Last Modified: 16 Jun 2021 06:16

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