The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks
- Published on 04/11/2025
- Reading time: 7 min.
Dos Santos Yann 1, Trefz Friedrich 2, Giżewska Maria 3, van Wegberg Annemiek M.J. 4, Lefort Bruno 5, Labarthe François 5, van Spronsen Francjan 4, Maillot François 1,6
1 Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032 Tours France
2 Metabolic Consulting Panorama Street 139 72766 Reutlingen Germany
3 https://ror.org/05vmz5070 Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age Pomeranian Medical University in Szczecin Szczecin Poland
4 https://ror.org/03cv38k47 Division of Metabolic Diseases, Beatrix Children’s Hospital University Medical Center Groningen Groningen The Netherlands
5 https://ror.org/00jpq0w62 Department of Pediatrics university hospital of Tours Tours France
6 https://ror.org/00jpq0w62 Department of Internal medicine university hospital of Tours Tours France
Abstract
Studies in adults with PKU have mainly focused on the neuropsychiatric complications that may arise in individuals who are unable to maintain the recommended lifetime diet. Some recent epidemiological studies suggest to consider other complications. As such, cardiovascular (CV) issues have been the subject of few studies to date. The aim of this review is to gather and discuss data from the literature on the traditional risks of CV complications in PKU, a potential CV phenotype...
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