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

Author:

Luengo-Pérez Luis M.12ORCID,Fernández-Bueso Mercedes2ORCID,Ambrojo Ana2,Guijarro Marta2,Ferreira Ana Cristina3,Pereira-da-Silva Luís45ORCID,Moreira-Rosário André56ORCID,Faria Ana46ORCID,Calhau Conceição56,Daly Anne7ORCID,MacDonald Anita7,Rocha Júlio César356ORCID

Affiliation:

1. Biomedical Sciences Department, University of Extremadura, 06008 Badajoz, Spain

2. Clinical Nutrition and Dietetics Unit, Badajoz University Hospital, 06008 Badajoz, Spain

3. Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal

4. CHRC—Comprehensive Health Research Centre, Nutrition Group, NOVA Medical School, Universidade Nova de Lisboa, 1349-008 Lisboa, Portugal

5. NOVA Medical School (NMS), Faculdade de Ciências Médicas (FCM), Universidade NOVA de Lisboa, Campo Mártires da Pátria 130, 1169-056 Lisboa, Portugal

6. CINTESIS@RISE, Nutrition and Metabolism, NOVA Medical School (NMS), Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Campo Mártires da Pátria 130, 1169-056 Lisboa, Portugal

7. Birmingham Children’s Hospital, Birmingham B4 6NH, UK

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.

Publisher

MDPI AG

Subject

Food Science,Nutrition and Dietetics

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