关键词：苯丙酮酸尿;代谢疾病;氨基酸;血液;诊断(医学)
摘 要：Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine (Phe) leads to a buildup of Phe in the blood, causing neurotoxicity and resulting in intellectual disability, delayed speech, seizures, and behavior abnormalities. Individuals with PKU are also susceptible to other adverse outcomes, including impaired executive function, reduced processing speed, attention problems, impaired fine motor skills, and mental health concerns (such as anxiety and depression symptoms). The most severe form of PKU, classic PKU, is typically characterized by blood Phe levels exceeding 1,200 umol/L while on a normal diet. PKU is typically diagnosed at birth following abnormal newborn screening results. With adherence to a Phe-restricted diet, poor outcomes can be mitigated.