Autism spectrum disorder and inherited metabolic diseases: are there any common features?

Q3 Medicine
Patryk Lipiński
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引用次数: 0

Abstract

Given the increasing prevalence and knowledge of autism spectrum disorders (ASD) and inherited metabolic diseases (IMD), the aim of this manuscript was to provide practical implications of the molecular (metabolic) diagnostics of ASD and also give the rationale of selective screening of IMD in paediatric patients presenting with autistic features. A wide range of autistic features have been reported in patients with various IMD, including aminoacidopathies, organic acidurias, cerebral creatine deficiencies, and defects of purines and pyrimidines metabolism. A total of 9 cross-sectional studies reporting children diagnosed with ASD, who were subsequently screened for IMD, were identified. There is no cause-effect relationship be-tween autism spectrum disorders and inherited metabolic diseases; however, all neurometabolic diseases presenting with intellectual disability may meet the criteria for ASD diagnosis.

自闭症谱系障碍和遗传性代谢疾病:有什么共同特征吗?
鉴于自闭症谱系障碍(ASD)和遗传代谢性疾病(IMD)的患病率和知识日益增加,本文的目的是提供ASD分子(代谢)诊断的实际意义,并为有自闭症特征的儿科患者选择性筛查IMD提供依据。据报道,患有各种IMD的患者具有广泛的自闭症特征,包括氨基酸病、有机酸血症、脑肌酸缺乏以及嘌呤和嘧啶代谢缺陷。共有9项横断面研究报告了被诊断为ASD的儿童,他们随后进行了IMD筛查。自闭症谱系障碍与遗传性代谢性疾病之间没有因果关系;然而,所有以智力残疾为表现的神经代谢性疾病都可能符合自闭症谱系障碍的诊断标准。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Pediatric Endocrinology, Diabetes and Metabolism
Pediatric Endocrinology, Diabetes and Metabolism Medicine-Pediatrics, Perinatology and Child Health
CiteScore
2.00
自引率
0.00%
发文量
36
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