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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http://dx.doi.org/10.1016/j.ymgmr.2024.101092 | DOI Listing |
Postgrad Med
January 2025
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Background: It has been reported that phenylalanine (Phe)-restricted diets may have negative effects on bone health in patients with classical phenylketonuria (cPKU). We aimed to evaluate bone mineral density (BMD) in adults with cPKU and determine the risk factors associated with low BMD.
Methods: Eighty adult patients with cPKU were examined, including 41 women and 39 men.
Nutrients
November 2024
Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.
Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy. To improve long-term outcomes, a specific prevention program was developed.
Methods: We designed a group training program for young women with PKU (>14 years) and their partners.
The first cohort of early-treated adults with phenylketonuria (PKU) is reaching middle-age and moving towards old age. We do not know if and how the effects of an aging brain may interact with the effect of PKU. This study compared wellbeing and cognition in 19 middle-aged adults with PKU (age 40+ mean = 45.
View Article and Find Full Text PDFACS Appl Bio Mater
December 2024
Unité de Technologies Chimiques et Biologiques pour la Santé - UTCBS, Faculté de Pharmacie de Paris, Université Paris Cité, CNRS UMR 8258, Inserm U1267, 75006 Paris, France.
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