Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria

Luis M. Luengo-Pérez, Mercedes Fernández-Bueso, Ana Ambrojo, Marta Guijarro, Ana Cristina Ferreira, Luís Pereira-da-Silva, André Moreira-Rosário, Ana Faria, Conceição Calhau, Anne Daly, Anita MacDonald, Júlio César Rocha

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Cardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It particularly focuses on nutritional ultrasound, given its emerging availability and practical utility in clinical settings. Possible causes of increased cardiometabolic risk in PKU are also explored, including an increased intake of carbohydrates, chronic exposure to amino acids, and characteristics of microbiota. It is important to evaluate cardiovascular risk factors and body composition in patients with PKU. We suggest systematic monitoring of body composition to develop nutritional management and hydration strategies to optimize performance within the limits of nutritional therapy.

Original languageEnglish
Article number5133
Issue number24
Publication statusPublished - Dec 2023


  • anthropometry
  • bioelectrical impedance
  • body composition
  • body fat
  • DXA scan
  • metabolic syndrome
  • microbioma
  • phenylketonuria
  • ultrasound
  • visceral fat


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