Narayanan Deepa, Barski Robert, Henderson Mick J, Luvai Ahai, Chandrajay Deepak, Stainforth Collette, Bradley Jacqueline, Rogozinski Hazel, Sharma Reena
Adult Inherited Metabolic Disease Clinic, St Luke's Hospital, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4.
Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with a delayed diagnosis of PKU. This case history highlights such an occurrence. PKU should be considered as an important differential in the diagnosis of adult patients with learning difficulties, seizures and behavioural problems. It would be prudent to instigate plasma and urine amino/organic acid analyses in adult patients with unexplained neuropsychological manifestations.
苯丙酮尿症（PKU）是一种影响氨基酸代谢的常染色体隐性疾病。英国国家新生儿筛查计划始于1969年，PKU是筛查计划涵盖的五种疾病之一。我们介绍了一个家庭中两名患有苯丙酮尿症且诊断延迟的兄弟姐妹的病史。该病史突出了这样一种情况。在诊断有学习困难、癫痫和行为问题的成年患者时，应将苯丙酮尿症视为一个重要的鉴别诊断。对于有无法解释的神经心理学表现的成年患者，进行血浆和尿液氨基酸/有机酸分析是明智的。
