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Abstract：
Patients with phenylketonuria (PKU) present signs of impaired executive functioning and bone health in adolescence and adulthood, depending in part on the success of therapy in childhood. Therefore, nine children with well-treated PKU (4-7 years old, 22.2% ♀, seven with a full set of data, two included into partial analysis) and 18 age-, gender- and season-matched controls were analyzed for differences in executive functioning and bone parameters in plasma. Plasma was analyzed with commercially available kits. Cognitive performance in tonic alertness, visuo-spatial working memory, inhibitory control and task switching was assessed by a task battery presented on a touch screen. Regarding cognition, only the performance in incongruent conditions in inhibitory control was significantly better in children with PKU than in controls. No further differences in cognitive tests were detected. Furthermore, no significant difference in the bone turnover markers osteocalcin, undercarboxylated osteocalcin and CTX were detected between children with PKU and controls, while children with PKU had a significantly higher vitamin D concentration (69.44 ± 12.83 nmol/L vs. 41.87 ± 15.99 nmol/L, p < 0.001) and trended towards lower parathyroid hormone concentrations than controls (48.27 ± 15.16 pg/mL vs. 70.61 ± 30.53 pg/mL, p = 0.066). In this small group of well-treated preschoolers with PKU, no impairments in cognitive performance and bone turnover were observed, while vitamin D supplementation of amino acid supplements seems to be sufficient to achieve good vitamin D status.
摘要：
苯丙酮尿症（PKU）患者在青春期和成年期表现出执行功能和骨骼健康受损的迹象，这在一定程度上取决于儿童期治疗的成功。因此,9名接受良好治疗的PKU儿童（4-7岁，22.2%‰，七个完整的数据，两个包括在部分分析中)和18岁-，分析了性别和季节匹配的对照组在血浆执行功能和骨参数方面的差异.用市售试剂盒分析血浆。强直性警觉性的认知表现，视觉空间工作记忆，抑制控制和任务切换通过触摸屏上显示的任务电池进行评估.关于认知，PKU患儿仅抑制控制在不一致条件下的表现明显优于对照组.在认知测试中没有发现进一步的差异。此外，骨转换标志物骨钙蛋白无显著差异，在PKU患儿和对照组之间检测到羧化不足的骨钙蛋白和CTX，而PKU患儿的维生素D浓度明显较高（69.44±12.83nmol/Lvs.41.87±15.99nmol/L,p<0.001），并且趋势是甲状旁腺激素浓度低于对照组（48.27±15.16pg/mL与70.61±30.53pg/mL，p=0.066)。在这一小群接受良好治疗的PKU学龄前儿童中，没有观察到认知能力和骨转换的损害，而补充维生素D的氨基酸补充剂似乎足以达到良好的维生素D状态。
