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
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
治疗流程
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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