苯丙酮尿症妇女怀孕的特征和结果（来自国家健康调查连接登记处

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Molecular Genetics and Metabolism Reports Pub Date : 2024-05-18 DOI:10.1016/j.ymgmr.2024.101092

Aileen Kenneson , Margite I. Borth , Rani H. Singh

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引用次数: 0

摘要

患有苯丙酮尿症（PKU）的妇女在怀孕前和怀孕期间应将血液中的苯丙氨酸（phe）浓度维持在推荐范围内，以防止其后代患上母体苯丙酮尿症综合征（MPKUS）。生下有 MPKUS 症状的孩子的妇女更有可能在怀孕前报告其血清苯丙氨酸浓度升高，以及在怀孕期间获得膳食管理组成部分（包括血清苯丙氨酸检测、医用食品、改良低蛋白食品和 PKU 专家的医疗访问）的障碍。

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Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring. Women who gave birth to children with MPKUS symptoms were more likely to report elevated phe concentration before pregnancy, and barriers to accessing components of their dietary management during pregnancy, including blood phe testing, medical food, modified low-protein foods, and healthcare visits with PKU specialists.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.