小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 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 honoraria from Biomarin for speaking engagements. She has conducted contract research funded by Biomarin and Homology Medicines.
同行评议者
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.
Stephanie Sacharow, MD
Medical Geneticist
Division of Genetics and Genomics
Boston Children's Hospital
Boston
MA
利益声明
SS has participated on advisory boards and has given talks at conferences sponsored by Biomarin. She has been a principal investigator in studies with Biomarin, Synlogic, and PTC Therapeutics.
鉴别诊断
- 四氢生物喋呤合成或再循环方面的先天缺陷
- 肝功能障碍
- 极度早产儿
更多 鉴别诊断指南
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- 苯丙氨酸羟化酶缺乏症：诊断和管控指南
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