高苯丙氨酸血症遗传分型与诊治
收稿日期: 2022-11-15
网络出版日期: 2023-02-16
基金资助
上海市卫生健康委员会面上项目(202040448)
Genetic classification, diagnosis, and treatment of hyperphenylalaninemia
Received date: 2022-11-15
Online published: 2023-02-16
高苯丙氨酸血症是一组常染色体隐性遗传氨基酸代谢病，由苯丙氨酸羟化酶及其辅酶四氢生物蝶呤缺陷引起，如不及时治疗将出现严重的神经系统损害，治疗以低苯丙氨酸饮食疗法和补充神经递质药物为主。我国于1982年开始进行高苯丙氨酸血症的新生儿筛查，越来越多的患者在新生儿疾病筛查过程中确诊。高苯丙氨酸血症的诊断已经从临床症状的诊断向新生儿期无症状的生化和基因诊断转变。如何对高苯丙氨酸血症患者进行早期识别和诊治，已然成为临床医师面临的新挑战。文章主要对高苯丙氨酸血症的遗传背景、诊断、鉴别诊断与治疗进行阐述，以提高临床医师对此疾病的认识。
梁黎黎 . 高苯丙氨酸血症遗传分型与诊治[J]. 临床儿科杂志, 2023 , 41(2) : 92 -97 . DOI: 10.12372/jcp.2023.22e1525
Hyperphenylalaninemia is a group of autosomal recessive amino acid metabolic disorders, caused by defects in phenylalanine hydroxylase and its coenzyme tetrahydrobiopterin. If left untreated, severe neurological damage will occur. Treatment is based on low-phenylalanine diet therapy and neurotransmitter drug supplementation. Newborn screening for hyperphenylalaninemia began in China in 1982, more and more patients are being diagnosed during the screening. The diagnosis of hyperphenylalaninemia has shifted from the diagnosis of clinical symptoms to biochemical and genetic diagnosis in asymptomatic period. The early differential diagnosis and proper treatment for patients with hyperphenylalaninemia has become a new challenge for clinicians. Therefore, the article focuses on the genetic background, diagnosis, differential diagnosis and treatment of hyperphenylalaninemia, to raise the awareness for the disease among clinicians.
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