Abstract：
Significant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched-chain amino acids leucine, isoleucine, and valine, where leucine is known as the primary neurotoxic metabolite. Newborn screening is helpful in early diagnosis and implementation of dietary treatment, thus reducing neurological deterioration and complications in young children. However, patients face the life-long challenge of maintaining metabolic control through adherence to a strict low-leucine diet to avoid long-term consequences of chronic hyperleucinemia, which include cognitive deficits, mood disorders, and movement disorders. This case report exemplifies the complex involvement of MSUD in adult survivors. Despite presenting early in life, the patient thrived until the onset of psychiatric symptoms. The subject of this case is a 25-year-old woman with MSUD, who remained in her usual state of health until presentation to the emergency department (ED) with psychosis and altered mental status. However, due to a lack of medical records and poor communication, there was a delay in considering MSUD as a primary cause of her psychiatric symptoms. Although a genetics consultation was later arranged and efforts were made to decrease plasma leucine to the therapeutic range, these interventions proved inadequate in halting her deterioration in health. Her condition worsened within 72 h, culminating in her untimely death. This case emphasizes the comorbidity of psychiatric involvement in MSUD, which contributes to metabolic decompensation that can lead to cerebral edema and death. This case also highlights the pressing need for enhanced strategies for the acute management and long-term care of MSUD patients with psychiatric involvement, particularly in scenarios where mental disturbance could lead to noncompliance.
摘要：
在提高枫糖浆尿病（MSUD）患者的早期结局方面取得了重大进展，一种罕见的代谢紊乱，导致支链氨基酸亮氨酸的积累，异亮氨酸,和缬氨酸,其中亮氨酸被称为主要的神经毒性代谢物。新生儿筛查有助于早期诊断和实施膳食治疗。从而减少幼儿神经系统恶化和并发症。然而,患者面临的终身挑战是通过坚持严格的低亮氨酸饮食来维持代谢控制，以避免慢性高白血病的长期后果，其中包括认知缺陷，情绪障碍,和运动障碍。此病例报告举例说明了MSUD在成年幸存者中的复杂参与。尽管在生命的早期出现，病人一直到出现精神症状为止。此案的主题是一名患有MSUD的25岁女性，她一直保持正常的健康状况，直到出现精神病和精神状态改变到急诊科（ED）。然而,由于缺乏医疗记录和沟通不畅，认为MSUD是她的精神症状的主要原因有延迟.尽管后来安排了遗传学咨询，并努力将血浆亮氨酸降低到治疗范围，事实证明，这些干预措施不足以阻止她的健康状况恶化。她的病情在72小时内恶化，最终导致她过早死亡。该案例强调了MSUD中精神病患者的合并症，这有助于代谢代偿失调，可导致脑水肿和死亡。这一案例也突出强调了对有精神病参与的MSUD患者的急性管理和长期护理的增强策略的迫切需要，特别是在精神障碍可能导致不遵守的情况下。
