Stanescu S, Belanger-Quintana A, Rocha J C, Almeida M F, Ahring K, Dokoupil K, Lammardo A M, van Dam E, Muriel A, MacDonald A
U. Enf. Metabolicas, Paediatric Department, MetabERN, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal.
Orphanet J Rare Dis. 2025 Aug 4;20(1):400. doi: 10.1186/s13023-025-03946-3.
Most of the studies on PKU have focused on the neurological development of patients. Studies regarding the physical development usually cover a short period of time, do not include dietary information, and results are contradictory. The aim of this study is to determine whether the patients with PKU have a normal growth, the incidence of obesity and the relationship of these parameters with diet and nutritional intake.
This is a retrospective, multicenter, multinational study including patients with PKU from 8 centers from different countries. Data of growth parameters and dietary regimes were collected from birth until the age of 18 years. Anthropometric tools of the WHO (Anthro version 3.2.2 and Anthro plus) were used to calculate z-score for weight-for-age, height-for-age and body mass index (BMI).
Data from 182 patients with classical PKU were included. The median height z-scores for both male and female patients showed a normal growth pattern according to the WHO charts. Significant positive correlation was observed between height z-score and the Phe (mg/day) and natural protein (g/day) intakes in all ages, especially in children younger than 11 years. The amount of Phe-free amino acid mixture did not affect the height, but lower intakes were negative correlated with the BMI. Also, we detected a positive correlation between the median Phe levels and BMI, meaning that the poorer metabolic control was correlated with higher BMI.
An objective of PKU is that patients have satisfactory final physical development; the height prognosis seems to be associated with Phe and natural protein intake and therefore should be optimized. It is important to collect longitudinal growth data throughout childhood and adolescence in PKU that considers any change in growth in relationship to dietary patterns.
大多数关于苯丙酮尿症（PKU）的研究都集中在患者的神经发育方面。有关身体发育的研究通常时间跨度较短，未纳入饮食信息，且结果相互矛盾。本研究的目的是确定PKU患者是否有正常生长、肥胖发生率以及这些参数与饮食和营养摄入之间的关系。
这是一项回顾性、多中心、跨国研究，纳入了来自不同国家8个中心的PKU患者。收集了从出生到18岁的生长参数和饮食方案数据。使用世界卫生组织（WHO）的人体测量工具（Anthro版本3.2.2和Anthro plus）计算年龄别体重、年龄别身高和体重指数（BMI）的z评分。
纳入了182例经典PKU患者的数据。根据WHO图表，男性和女性患者的身高z评分中位数均显示出正常的生长模式。在所有年龄段，尤其是11岁以下儿童中，观察到身高z评分与苯丙氨酸（Phe，毫克/天）和天然蛋白质（克/天）摄入量之间存在显著正相关。无苯丙氨酸氨基酸混合物的量不影响身高，但摄入量较低与BMI呈负相关。此外，我们检测到Phe中位数水平与BMI之间存在正相关，这意味着代谢控制较差与较高的BMI相关。
PKU的一个目标是患者有令人满意的最终身体发育；身高预后似乎与Phe和天然蛋白质摄入量有关，因此应进行优化。在PKU患者的整个儿童期和青春期收集纵向生长数据很重要，这些数据要考虑到生长与饮食模式的任何变化。
