Clinical management of pregnant women with hyperphenylalaninemia
Yang Xueting, Hao Na, Zhou Xiya
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, National Key Laboratory of Critical and Rare Diseases, National Clinical Research Center for Obstetric and Gynecological Diseases, Beijing 100730, China
Abstract: 【Abstract 】Maternal hyperphenylalaninemia (HPA), particularly maternal phenylalanine hydroxylase (PAH) deficiency, is an important maternal disorder affecting fetal development. This article provides a comprehensive review of the current management strategies, both domestically and internationally, for pregnant women with HPA across the preconception, prenatal, and postpartum periods . The program emphasizes preconception health education to improve treatment adherence and the use of genetic diagnosis for accurate phenotyping, which can guide personalized therapy and genetic risk assessment. Prenatal management relies on multidisciplinary collaboration. This approach involves the strict regulation of phenylalanine (Phe) intake of the pregnant women with HPA, while ensuring adequate fetal nutrition, and regular monitoring of maternal blood Phe levels. Concurrently, close monitoring of fetal structural development and growth parameters is essential. Postnatal management includes newborn screening, encouragement of breastfeeding for non-HPA infants, and long-term Phe monitoring of mothers. It is evident that the implementation of rigorous preconception Phe control, personalized nutritional management throughout thepreconception, prenatal, and postpartum periods, multidisciplinary collaboration, and comprehensive long-term follow-up, can substantially improve outcomes for both mothers and infants.
2025, Vol. 13 
