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Review
. 2023 Dec 18;15(24):5133.
doi: 10.3390/nu15245133.

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

Luis M Luengo-Pérez  1   2 , Mercedes Fernández-Bueso  2 , Ana Ambrojo  2 , Marta Guijarro  2 , Ana Cristina Ferreira  3 , Luís Pereira-da-Silva  4   5 , André Moreira-Rosário  5   6 , Ana Faria  4   6 , Conceição Calhau  5   6 , Anne Daly  7 , Anita MacDonald  7 , Júlio César Rocha  3   5   6
Affiliations
Review

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

Luis M Luengo-Pérez et al. Nutrients. .

Abstract

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.

Keywords: DXA scan; anthropometry; bioelectrical impedance; body composition; body fat; metabolic syndrome; microbioma; phenylketonuria; ultrasound; visceral fat.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Review process of the main objective: body composition in phenylketonuria.
Figure 2
Figure 2
An 8-bit ultrasound image with the selection of one Region of Interest (ROI) and the histogram showing distribution of echo intensities within the ROI.
Figure 3
Figure 3
Data table with all the measures and summary of echo intensities in every file within the Region of Interest.
Figure 4
Figure 4
Factors affecting gut microbiota. The inner circle shows the known factors that modulate microbiota. In the outer circle, there are additional factors specific to the PKU population.
See this image and copyright information in PMC

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