College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
BMC Med Genomics. 2024 Mar 21;17(1):76. doi: 10.1186/s12920-024-01847-1.
PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ®) treatment has been approved to reduce blood Phe concentrations in adult phenylketonuria patients with uncontrolled blood Phe concentrations greater than 600 micromol/L on current management. However, data regarding individuals under the age of 16 is still unavailable.
We report a 12-year-old Saudi girl who underwent pegvaliase therapy and was closely monitored for one year. Remarkably, a positive therapeutic response became apparent six months after commencing pegvaliase treatment. Phenylalanine (Phe) levels showed significant improvement, stabilising within the < 5 to 14 µmol/L range on a regular diet without any restriction. At her current age of 12, the patient maintains an unrestricted dietary regimen, consuming a diverse selection of foods, including poultry, meat, and protein sources, all while consistently maintaining normal Phe levels with no change in mental status after treatment. The parents gave their written, informed consent in allowing the research study to be carried out and clinical data to be published.
This report addresses the potential broader applications of Pegvaliase in children, as well as its safety and tolerability in this age group. However, larger sample sizes and robust methodologies are required to validate such findings.
苯丙酮尿症（PKU）是一种常染色体隐性遗传性代谢缺陷病，由苯丙氨酸羟化酶缺乏引起。培维索珠单抗（PALYNZIQ®）已被批准用于降低未得到控制的血苯丙氨酸（Phe）浓度大于 600 微摩尔/升的成年苯丙酮尿症患者的血 Phe 浓度。然而，关于 16 岁以下个体的数据仍未获得。
我们报告了一例 12 岁的沙特女孩，她接受了培维索珠单抗治疗，并接受了为期一年的密切监测。令人惊讶的是，在开始培维索珠单抗治疗六个月后，出现了积极的治疗反应。苯丙氨酸（Phe）水平显著改善，在正常饮食下稳定在<5 至 14 μmol/L 范围内，无需任何限制。目前，该患者 12 岁，维持着无限制的饮食方案，摄入多种食物，包括禽肉、肉类和蛋白质来源，同时持续保持正常的 Phe 水平，治疗后精神状态没有变化。父母书面同意允许进行研究并发表临床数据。
本报告探讨了培维索珠单抗在儿童中的潜在更广泛应用，以及其在该年龄段的安全性和耐受性。然而，需要更大的样本量和更稳健的方法来验证这些发现。
