Lipiński Patryk
Institute of Clinical Sciences, Maria-Sklodowska-Curie Medical Academy, Warsaw, Poland.
Department of Paediatrics, Bielanski Hospital, Warsaw, Poland.
Pediatr Endocrinol Diabetes Metab. 2025;31(1):30-34. doi: 10.5114/pedm.2025.148397.
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.
鉴于自闭症谱系障碍（ASD）和遗传性代谢疾病（IMD）的患病率不断上升以及人们对它们的了解日益增加，本文的目的是阐述ASD分子（代谢）诊断的实际意义，并说明对具有自闭症特征的儿科患者进行IMD选择性筛查的基本原理。在患有各种IMD的患者中已报告了广泛的自闭症特征，包括氨基酸病、有机酸尿症、脑肌酸缺乏症以及嘌呤和嘧啶代谢缺陷。共确定了9项横断面研究，这些研究报告了被诊断为ASD的儿童，随后对他们进行了IMD筛查。自闭症谱系障碍与遗传性代谢疾病之间不存在因果关系；然而，所有表现为智力残疾的神经代谢疾病可能符合ASD诊断标准。
