Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH₄ deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH₄ deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH₄ deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.

中文翻译：

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评估神经递质相关疾病患者的智力障碍、健康相关生活质量和行为表型：来自 iNTD 登记处的数据

遗传性神经递质代谢障碍是一组罕见的疾病，由神经递质或辅因子的合成、转运或降解受损引起，并导致不同程度的精神运动发育延迟或受损。为了评估神经递质缺乏对智力、生活质量和行为的影响，使用标准化年龄调整测试和问卷的结果评估了国际神经递质相关疾病工作组 (iNTD) 登记处的 148 名患者的数据。_{与患有 BH 4}的患者相比，患有原发性单胺代谢障碍的患者在认知障碍 (<70) 范围内的智商评分较低（平均智商 58，范围 40-100）缺陷（平均智商 84，范围 40-129）。父母最常提到注意力持续时间短和注意力分散，而当被问及行为特征时，患者最常报告焦虑和注意力分散。在琥珀酸半醛脱氢酶缺乏症患者中，父母常报告自我刺激行为，而在多巴胺转运蛋白缺乏症、DNAJC12 缺乏症和单胺氧化酶 A 缺乏症患者中，通常观察到自伤或自残行为。6-丙酮酰四氢蝶呤合酶缺乏症患者的恐惧感增加，而乌贼酮还原酶缺乏症患者经常出现沟通和睡眠困难。_{BH 4}患者与其他组相比，缺乏症显着提高了生活质量。_{对 iNTD 注册数据的分析强调：(a) BH 4}缺乏症和原发性神经递质相关疾病之间的智商和生活质量子域的差异，以及 (b) 先前被低估的行为特征。