The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks
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...
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BMC
2025-04-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03686-4 |
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| author | Yann Dos Santos Friedrich Trefz Maria Giżewska Annemiek M.J. van Wegberg Bruno Lefort François Labarthe Francjan van Spronsen François Maillot |
| author_facet | Yann Dos Santos Friedrich Trefz Maria Giżewska Annemiek M.J. van Wegberg Bruno Lefort François Labarthe Francjan van Spronsen François Maillot |
| author_sort | Yann Dos Santos |
| collection | DOAJ |
| description | 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 in this population and the various non-traditional risks and potential associated mechanisms. The reported prevalence of comorbidities suggests an increased risk of CV complications in adults with PKU, mostly in late-diagnosed patients. Studies about a specific CV phenotype associated with PKU are suggestive, although further studies are needed. The data on oxidative stress in this population are consistent and confirm an increased CV risk. Regarding other potential mechanisms, it is not possible to conclude whether adult PKU patients have low grade inflammation, dyslipidemia, kidney impairment or if they have hyperhomocysteinemia. It would be of interest to measure potential biomarker associated with CV complications, such as homocysteine, asymmetric dimethylarginine and kynurenines (quinolic acid). |
| format | Article |
| id | doaj-art-c36853abf8aa4f1fae48ac66de86dba2 |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-c36853abf8aa4f1fae48ac66de86dba22025-08-20T01:56:01ZengBMCOrphanet Journal of Rare Diseases1750-11722025-04-0120111210.1186/s13023-025-03686-4The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risksYann Dos Santos0Friedrich Trefz1Maria Giżewska2Annemiek M.J. van Wegberg3Bruno Lefort4François Labarthe5Francjan van Spronsen6François Maillot7Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032Metabolic ConsultingDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in SzczecinDivision of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center GroningenDepartment of Pediatrics, university hospital of ToursDepartment of Pediatrics, university hospital of ToursDivision of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center GroningenUniversité de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032Abstract 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 in this population and the various non-traditional risks and potential associated mechanisms. The reported prevalence of comorbidities suggests an increased risk of CV complications in adults with PKU, mostly in late-diagnosed patients. Studies about a specific CV phenotype associated with PKU are suggestive, although further studies are needed. The data on oxidative stress in this population are consistent and confirm an increased CV risk. Regarding other potential mechanisms, it is not possible to conclude whether adult PKU patients have low grade inflammation, dyslipidemia, kidney impairment or if they have hyperhomocysteinemia. It would be of interest to measure potential biomarker associated with CV complications, such as homocysteine, asymmetric dimethylarginine and kynurenines (quinolic acid).https://doi.org/10.1186/s13023-025-03686-4PhenylketonuriaAdultsCardiovascular disease |
| spellingShingle | Yann Dos Santos Friedrich Trefz Maria Giżewska Annemiek M.J. van Wegberg Bruno Lefort François Labarthe Francjan van Spronsen François Maillot The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks Orphanet Journal of Rare Diseases Phenylketonuria Adults Cardiovascular disease |
| title | The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks |
| title_full | The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks |
| title_fullStr | The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks |
| title_full_unstemmed | The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks |
| title_short | The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks |
| title_sort | relationship between adult phenylketonuria and the cardiovascular system insights into mechanisms and risks |
| topic | Phenylketonuria Adults Cardiovascular disease |
| url | https://doi.org/10.1186/s13023-025-03686-4 |
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