In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin and neutrotransmitter disorders, biotinidase deficiency, Smith–Lemni–Opitz syndrome, disorders of cerebral creatine metabolism, urea cycle defects, homocystinuria, purine‐pyrimidine metabolism disorders, mitochondrial disorders, cerebrotendinous xantomatosis, mucopolysaccaridosis, and glucose 6 phosphate dehydrogenase deficiency were screened with complete blood counts, complete biochemical analyses, homocysteine levels, an arterial blood gase, and metabolic investigations. Six patients were diagnosed as follows: one with phenylketonuria (PKU), one with cerebral creatine deficiency, one with hypobetalipoproteinemia, one with glycogen storage disease type IX‐a, one with dihydropyrimidine dehydrogenase deficiency, and one with succinic semialdehyde dehydrogenase deficiency (SSADHD). Forty‐six patients screened for IEM were from consanguineous families, among them, one was diagnosed with FKU and the other was with SSADHD. It would not be expected to find PKU in a 5‐year‐old patient as a result of newborn screening, but she could not been screened due to being a refugee. The diagnosed diseases were rare presentations of the diseases and furthermore, the diagnosis of hypobetalipoproteinemia and glycogen storage disease type IX‐a were surprising with the only presentation of ASDs.

中文翻译：

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自闭症：筛查先天性代谢错误和意外结果

在这项研究中，目的是检查仅患有自闭症但无其他发现的患有先天性代谢错误（IEM）的患者，以提示任何其他神经系统和遗传性疾病。为了调查IEM，研究了247例因自闭症谱系障碍（ASD）的进一步评估而从儿科精神科转至儿科代谢门诊的患者的医院记录数据。其中，对237例IEM导致ASD的患者进行了评估。有机酸血症，苯丙酮尿症，四氢生物蝶呤和中性递质疾病，生物素酶缺乏症，史密斯-莱姆尼-奥皮兹综合征，脑肌酸代谢紊乱，尿素循环缺陷，高半胱氨酸尿症，嘌呤-嘧啶代谢紊乱，线粒体疾病，脑膜状黄原体病，黏膜多糖 通过全血细胞计数，完整的生化分析，高半胱氨酸水平，动脉血气和代谢检查筛查了葡萄糖和6磷酸葡萄糖脱氢酶缺乏症。有6名患者被诊断如下：1例患有苯丙酮尿症（PKU），1例患有脑肌酸缺乏症，1例患有低血脂蛋白血症，1例患有IX-a型糖原贮积病，1例患有二氢嘧啶脱氢酶缺乏症和1例琥珀酸半醛脱氢酶缺乏症（SSADHD） 。筛查IEM的四十六名患者来自近亲，其中一名被确诊为FKU，另一名被确诊为SSADHD。新生儿筛查不会在5岁患者中发现PKU，但由于是难民而无法筛查。