Instituto de Nutrición y Tecnología de Alimentos INTA, Universidad de Chile, Santiago 7830490, Chile.
Nutrients. 2023 Jun 28;15(13):2939. doi: 10.3390/nu15132939.
There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment.
Three groups were considered-PKU-1: 10 patients who used a protein substitute (PS) without phenylalanine (Phe); PKU-2: 14 patients who used the PS without Phe until eighteen years old and then practiced mostly a vegan diet; and 24 matched healthy controls. A 24 h recall survey, blood parameters, body composition and bone mineral density through DEXA, rectus femoris thickness by ultrasound, hand grip strength, submaximal exercise test, and walking speed were assessed.
PKU-1 patients had lower hand grip strength than their matched controls, but no other differences. Compared to controls, the PKU-2 group had lower fat-free mass ( = 0.01), less spine and femoral bone mineral density ( = 0.04 and < 0.01, respectively), and peak workload on the incremental test ( = 0.03). When comparing PKU groups, blood Phe levels were significantly lower in the PKU-1 group ( = 0.02).
Among PKU patients, abandoning the dietary treatment and maintaining high blood Phe concentrations could be deleterious for muscles and bones. However, we cannot discard other causes of bone and muscle damage in these patients.
苯丙酮尿症（PKU）患者存在肌肉和骨骼健康问题。我们的目的是比较坚持或停止饮食治疗的年轻成年 PKU 患者的肌肉质量、功能和骨骼健康。
考虑了三组患者-PKU-1：10 名使用不含苯丙氨酸（Phe）的蛋白质替代物（PS）的患者；PKU-2：14 名在 18 岁之前使用不含 Phe 的 PS，然后主要实行素食饮食的患者；以及 24 名匹配的健康对照者。通过 24 小时回顾性调查、血液参数、DEXA 测量的身体成分和骨矿物质密度、超声测量股直肌厚度、手握力、亚最大运动测试和步行速度评估。
PKU-1 患者的手握力低于其匹配的对照组，但没有其他差异。与对照组相比，PKU-2 组的无脂肪质量较低（=0.01），脊柱和股骨骨矿物质密度较低（=0.04 和 <0.01，分别），递增测试的峰值工作量较低（=0.03）。当比较 PKU 组时，PKU-1 组的血液 Phe 水平明显较低（=0.02）。
在 PKU 患者中，放弃饮食治疗并保持高血液 Phe 浓度可能对肌肉和骨骼有害。然而，我们不能排除这些患者骨骼和肌肉损伤的其他原因。
