We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria‐related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplements. At 22 months, he passed a calcium oxalate stone and was found to have numerous bilateral kidney stones. Genetic testing confirmed primary hyperoxaluria, type 1. He underwent preemptive liver transplant at age four to treat primary hyperoxaluria. Following transplant, his serum methionine and homocysteine levels normalized, thus, demonstrating resolution of homocystinuria. Methionine and homocysteine levels remained normal 6 years later. Homocystinuria is associated with ophthalmologic, skeletal, neurologic, and thromboembolic complications. As cystathionine beta‐synthase resides in the liver, transplant was hypothesized to be an effective treatment. Primary hyperoxaluria generally progresses to chronic kidney disease and is treated with combined kidney‐liver transplant at the time of end stage kidney disease. Given this patient's dual diagnoses, we proceeded with preemptive liver transplantation. Three prior cases of patients with homocystinuria treated with liver transplantation have been reported. In all cases, transplant resolved metabolic effects. However, our case represents a pediatric patient without disease‐related complications prior to transplant. This case supports liver‐targeted gene therapies as an effective treatment for homocystinuria.

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肝移植作为典型高胱氨酸尿症儿科患者的治愈性治疗：病例报告

我们报告了一名患有高胱氨酸尿症和高草酸尿症的患者，他们在肝移植后治愈了高胱氨酸尿症相关疾病。该患者在新生儿时被诊断出患有高胱氨酸尿症，并接受了饮食调整和补充剂治疗。在 22 个月时，他通过了草酸钙结石，并被发现有许多双侧肾结石。基因检测证实了原发性高草酸尿症，1 型。他在 4 岁时接受了先发性肝移植以治疗原发性高草酸尿症。移植后，他的血清蛋氨酸和同型半胱氨酸水平恢复正常，因此表明高半胱氨酸尿症已消退。6 年后蛋氨酸和同型半胱氨酸水平保持正常。高胱氨酸尿症与眼科、骨骼、神经系统和血栓栓塞并发症有关。由于胱硫醚β-合酶存在于肝脏中，假设移植是一种有效的治疗方法。原发性高草酸尿症通常会发展为慢性肾病，并在终末期肾病时进行肾肝联合移植治疗。鉴于该患者的双重诊断，我们进行了抢先性肝移植。曾报道过三例接受肝移植治疗的高胱氨酸尿症患者。在所有情况下，移植都解决了代谢效应。然而，我们的病例代表了一名在移植前没有疾病相关并发症的儿科患者。该病例支持肝脏靶向基因疗法作为高胱氨酸尿症的有效治疗方法。原发性高草酸尿症通常会发展为慢性肾病，并在终末期肾病时进行肾肝联合移植治疗。鉴于该患者的双重诊断，我们进行了抢先性肝移植。曾报道过三例接受肝移植治疗的高胱氨酸尿症患者。在所有情况下，移植都解决了代谢效应。然而，我们的病例代表了一名在移植前没有疾病相关并发症的儿科患者。该病例支持肝脏靶向基因疗法作为高胱氨酸尿症的有效治疗方法。原发性高草酸尿症通常会发展为慢性肾病，并在终末期肾病时进行肾肝联合移植治疗。鉴于该患者的双重诊断，我们进行了抢先性肝移植。曾报道过三例接受肝移植治疗的高胱氨酸尿症患者。在所有情况下，移植都解决了代谢效应。然而，我们的病例代表了一名在移植前没有疾病相关并发症的儿科患者。该病例支持肝脏靶向基因疗法作为高胱氨酸尿症的有效治疗方法。移植解决了代谢效应。然而，我们的病例代表了一名在移植前没有疾病相关并发症的儿科患者。该病例支持肝脏靶向基因疗法作为高胱氨酸尿症的有效治疗方法。移植解决了代谢效应。然而，我们的病例代表了一名在移植前没有疾病相关并发症的儿科患者。该病例支持肝脏靶向基因疗法作为高胱氨酸尿症的有效治疗方法。