Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.

ABSTRACT:

Background/objectives

Phenylketonuria is a hereditary metabolic disorder characterized by a deficiency of phenylalanine hydroxylase. The main treatment for PKU is a phenylalanine-restricted diet. The exclusion of protein rich natural foods and inclusion of low-Phe substitutes may give rise to an imbalanced diet, and the increased risk of overweight and obesity in PKU is a cause for concern. We aimed to evaluate the body composition and nutritional biochemical biomarkers in adult PKU patients who are on Phe-restricted and essential amino acid-supplemented nutrition therapy and to investigate the relationships between these parameters and patient gender, adherence to dietary therapy, and disease type, defined as mild or classic PKU.

Methods

The study group comprised 37 PKU pat

SUBMITTER: Balci MC 

PROVIDER: S-EPMC11478503 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature