Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-LemliOpitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes—MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), NiemannPick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. In this review, we briefly describe etiology, clinical presentation, and therapeutic principles, if they exist, for these conditions. Additionally, we suggest the primary and elective laboratory work-up for their successful early diagnosis.
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机译：越来越多的证据表明，自闭症谱系障碍（ASD）可能与原始代谢的原始误差相关，例如氨基酸代谢和运输疾病[苯丙酮尿尿，同型血糖尿，S-腺苷基质细胞水解酶缺乏，支链α-酮酸脱氢酶激酶缺乏，尿素周期疾病（UCD），哈氏抑菌病]，有机酸核尿（丙氨酸核，L-2羟基砷酸核），胆固醇生物合成缺陷（史密斯 - Lemliopitz综合征），线粒体障碍（线粒体脑膜病，乳酸性酸中毒和卒中等集中 - Melas综合征），神经递质障碍（琥珀酸半醛脱氢酶缺乏），嘌呤新陈代谢疾病α【腺苷酸裂解酶（ADSL）缺乏，脑肌酸缺乏综合征（CCDS），叶酸障碍和代谢（脑叶酸缺乏症），亚甲基四氢氟丙酯还原酶缺乏），溶酶体储存障碍[Sanfilippo Syn DROME，神经元曲线血清术（NCL），NIEMANNPICK型C]，脑肿瘤曲线症（CTX），铜代谢紊乱（威尔逊病），血糖生物合成障碍[急性间歇性斑岩（AIP）]和脑铁累积疾病。在本综述中，如果存在这些条件，我们简要描述了病因，临床介绍和治疗原则。此外，我们建议他们成功的早期诊断的主要和选修实验室锻炼。
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