Barone Helene, Elgen Irene Bircow, Bliksrud Yngve Thomas, Vangsøy Hansen Eirik, Skavhellen Rita Rigmor, Furevik Magne Ivar, Haavik Jan
Regional Resource Center for Autism, ADHD and Tourette Syndrome, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Department of Child and Adolescent Psychiatry, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Front Psychiatry. 2023 Jul 18;14:1213590. doi: 10.3389/fpsyt.2023.1213590. eCollection 2023.
Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated with the enzyme inhibitor nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione, NTBC]. It has been reported that ADHD treatment improves treatment compliance, which is imperative for the long-term prognosis of patients with TYRSN1. In this study, we report the case of a male patient who was diagnosed with TYRSN1 at 3 months of age and was subsequently treated with NTBC, restricted protein intake, and amino acids supplementation. At 7 years of age, he was referred for neuropsychiatric assessment, diagnosed with ADHD, and treated with methylphenidate. The effects of the treatment were monitored via parental interviews, questionnaires covering ADHD symptoms, and a continuous performance test. A reduction in ADHD symptoms, particularly inattentiveness, was observed across all measures. The early identification of ADHD and the treatment of neurometabolic disorders, such as TYRSN1, may be important from a lifetime perspective as this may improve the prognosis of the medical condition as well.
诸如1型酪氨酸血症（TYRSN1）等神经代谢紊乱可能会干扰大脑代谢，并在接受酶抑制剂尼替西农[2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮，NTBC]治疗的患者中表现出注意力缺陷多动障碍（ADHD）的症状。据报道，ADHD治疗可提高治疗依从性，这对于TYRSN1患者的长期预后至关重要。在本研究中，我们报告了一名男性患者的病例，该患者在3个月大时被诊断为TYRSN1，随后接受了NTBC治疗、限制蛋白质摄入和补充氨基酸。7岁时，他因神经精神评估前来就诊，被诊断为ADHD，并接受了哌甲酯治疗。通过家长访谈、涵盖ADHD症状的问卷以及持续操作测试来监测治疗效果。在所有测量指标中均观察到ADHD症状有所减轻，尤其是注意力不集中的症状。从终身角度来看，早期识别ADHD以及治疗诸如TYRSN1等神经代谢紊乱可能很重要，因为这也可能改善病情的预后。
