期刊
PEDIATRICS
卷 126, 期 2, 页码 333-341出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2009-3584
关键词
PKU; hyperphenylalaninemia; phenylalanine; blood-brain barrier; cognitive function; optimal and consistent care; tetrahydrobiopterin; sapropterin
类别
资金
- Merck Serono SA (Geneva, Switzerland)
- Swiss National Science Foundation [3100A0-119982/1]
- Vitaflo International
- Nutricia
- SHS International
- BioMarin Pharmaceuticals (United States)
- Merck Serono SA
Despite recent advances in the management of phenylketonuria and hyperphenylalaninemia, important questions on the management of this disorder remain unanswered. Consensus exists on the need for neonatal screening and early treatment, yet disagreement persists over threshold levels of blood phenylalanine for starting treatment, target blood phenylalanine levels, and the management of older patient groups. The mainstay of treatment is a phenylalanine-restricted diet, but its application varies between and within countries. Beyond diet treatment, there is a lack of consensus on the use of newer treatments such as tetrahydrobiopterin. Although neonatal screening and early treatment has meant that most well-treated children grow up with near-normal IQ scores, the effect of relaxing metabolic control on cognitive and executive function later in life is still not fully understood. Although it is clear from the available literature that the active control of blood phenylalanine levels is of vital importance, there are other treatment-related factors that affect outcome. A uniform and firmly evidence-based approach to the management of phenylketonuria is required. Pediatrics 2010;126:333-341
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据