苯丙酮尿症

最后审阅: 8 十一月 2022
最后更新: 28 九月 2018

小结

定义

病史和体格检查

关键诊断因素

  • PKU 家族史
  • 新生儿PKU筛查阳性
更多 关键诊断因素

其他诊断因素

  • 智力残疾
  • 小头畸形
  • 湿疹
  • 眼睛和头发色素减少
  • 惊厥
  • 鼠臭尿液
其他诊断因素

危险因素

  • PKU 家族史
  • 白人血统
更多 危险因素

诊断性检查

首要检查

  • 新生儿代谢性疾病筛查
更多 首要检查

需考虑的检查

  • 血浆氨基酸的定量分析
  • 血二氢蝶啶还原酶(DHPR)检测
  • 尿液中新喋呤(neopterin)与生物喋呤(biopterin)的比值
  • 苯丙氨酸羟化酶基因的突变分析
  • 四氢生物喋呤(BH4)敏感性试验
更多 需考虑的检查

治疗流程

急症处理

所有患者

撰稿人

作者

Barbara K. Burton, MD

Professor of Pediatrics

Northwestern University Feinberg School of Medicine

Director

PKU Clinic

Ann and Robert H. Lurie Children’s Hospital of Chicago

Chicago

IL

利益声明

BKB has received consulting fees and funding for the conduct of clinical trials from BioMarin Pharmaceutical, the manufacturer of sapropterin and pegvaliase (pegylated phenylalanine ammonia-lyase).

同行评议者

Harvey L. Levy, MD

Senior Physician in Medicine/Genetics

Children's Hospital Boston

Professor of Pediatrics

Harvard Medical School

Boston

MA

利益声明

HLL has served on the PKU Scientific Advisory Board for BioMarin Pharmaceuticals Inc. and has received consultation fees from the company for attending meetings, giving lectures, and participating in symposia. BioMarin markets treatment for phenylketonuria.

Berthold Koletzko, MD

Professor of Pediatrics

University of Munich

Head of Division of Metabolic Diseases and Nutritional Medicine

Dr von Hauner Children's Hospital

Ludwig-Maximilians-University of Munich

Lindwurmstr

Germany

利益声明

BK has received research support from Danone Medical Nutrition and is the recipient of a Freedom to Discover Award of the Bristol Myers Squibb Foundation.

  • 鉴别诊断

    • 四氢生物喋呤(BH4)合成的先天障碍
    • 肝功能障碍
    • 极度早产儿
    更多 鉴别诊断
  • 指南

    • 欧洲苯丙酮尿症全面指南:诊断和治疗
    • PKU的管控
    更多 指南
  • 患者教育信息

    ADHD: what is it?

    ADHD in children: what treatments work?

    更多 患者教育信息
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