The cardiovascular phenotype of adult patients with phenylketonuria.
Aline AzabdaftariMarkus van der GietMirjam SchuchardtJulia B HennermannUrsula PlöckingerUwe QuerfeldPublished in: Orphanet journal of rare diseases (2019)
This study shows that the cardiovascular phenotype of adult PKU patients is characterized by an accumulation of traditional cardiovascular risk factors, high levels of inflammatory and oxidative stress markers, endothelial dysfunction and vascular stiffness. These data indicate the need for early cardiovascular risk reduction in patients with PKU.
Keyphrases
- cardiovascular risk factors
- oxidative stress
- end stage renal disease
- ejection fraction
- newly diagnosed
- cardiovascular disease
- metabolic syndrome
- prognostic factors
- electronic health record
- type diabetes
- machine learning
- patient reported outcomes
- big data
- diabetic rats
- endoplasmic reticulum stress
- heat shock
- heat stress