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

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.

Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria—Systematic Review

“…Anthropometric techniques are imprecise for evaluating visceral/ectopic fat mass, and more specific evaluation methods are available [ 1 , 10 , 57 ].…”

“…The Global Leadership Initiative on Malnutrition recommends anthropometry, only when technical approaches to assess muscle mass are not available [ 9 ]. Most available clinical fat assessment techniques are bioelectrical impedance analysis (BIA), and nutritional ultrasound, while others such as dual X-ray absorptiometry (DXA), computed tomography (CT), or magnetic resonance imaging (MRI) are less available or only opportunistic [ 10 ].…”