苯丙酮尿症的成人问题。
Adult issues in phenylketonuria.
作者信息
Hoeks M P A, den Heijer M, Janssen M C H
机构信息
Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, the Netherlands.
出版信息
Neth J Med. 2009 Jan;67(1):2-7.
PMID:19155540
Abstract
Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet. However, in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide guidelines for the clinician to understand and manage PKU in adults.
摘要
苯丙酮尿症（PKU）是遗传性代谢疾病的一个典型例子，通过饮食可成功预防智力发育迟缓。然而，成年苯丙酮尿症患者会出现一些新问题，如维生素缺乏、骨质疏松和母体苯丙酮尿症综合征。这篇综述文章的目的是为临床医生提供指导，以了解和管理成年苯丙酮尿症患者。
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