最近审阅: 26 十月 2020
最近更新: 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

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

危险因素

  • PKU 家族史
  • 白人血统

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

急性处理

撰稿人

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).

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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.

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.

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