Palermo Liana, Geberhiwot Tarekegn, MacDonald Anita, Limback Ellie, Hall S Kate, Romani Cristina
School of Life and Health Sciences, Aston University.
IMD Department, Queen Elizabeth Hospital.
Neuropsychology. 2017 Mar;31(3):255-267. doi: 10.1037/neu0000337. Epub 2017 Jan 12.
Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature.
We tested 37 AwPKU with an unprecedented number of tasks (N = 28) and measures (N = 44) and compared results with 30 controls matched for age and education.
We found (a) group impairments, particularly in tasks tapping speed of processing and complex executive functions; (b) high variability across participants, with a sizable number of AwPKU with completely normal performance (about 38%); (c) but also a sizable number of participants who were clearly impaired (about 24%); and (d) good performance in tasks tapping verbal learning, verbal memory and orthographic processing, indicating no generalized learning impairment.
Our results indicate good outcomes, but also that deficits are still present with current treatment policies. (PsycINFO Database Record
苯丙酮尿症（PKU）是一种遗传性代谢疾病，由于无法代谢苯丙氨酸，导致大脑中有毒副产物（苯丙氨酸）积累，从而影响认知功能。PKU可以通过低苯丙氨酸饮食有效治疗，但仍存在一些认知缺陷。研究报告了认知障碍，尤其是在处理速度和执行功能方面，但缺乏对各个认知领域的综合评估。此外，对于代谢控制比文献中先前报道的组更好的早期治疗的成年苯丙酮尿症患者（AwPKU），确定其结果很重要。
我们用前所未有的大量任务（N = 28）和测量方法（N = 44）测试了37名AwPKU患者，并将结果与30名年龄和教育程度相匹配的对照组进行比较。
我们发现（a）组间存在障碍，特别是在涉及处理速度和复杂执行功能的任务中；（b）参与者之间存在高度变异性，相当数量的AwPKU患者表现完全正常（约38%）；（c）但也有相当数量的参与者明显受损（约24%）；（d）在涉及言语学习、言语记忆和正字法处理的任务中表现良好，表明没有普遍的学习障碍。
我们的结果表明有良好的结果，但也表明当前的治疗策略仍存在缺陷。（PsycINFO数据库记录）
