ArticleMolecular genetics and metabolism reports2020
Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Pooled it
- Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status.Journal of inherited metabolic disease · 2026Article
- Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.International journal of molecular sciences · 2025Article
- Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.JIMD reports · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Article
- Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers.Medicina (Kaunas, Lithuania) · 2024Article
- Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria.Nutrients · 2023Review
- Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet.Nutrients · 2023Article
- Nutrient Status among Latvian Children with Phenylketonuria.Children (Basel, Switzerland) · 2023Article
- The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico.Nutrients · 2023Article
- Sex-Gender-Based Differences in Metabolic Diseases.Handbook of experimental pharmacology · 2023Review
- Article
- Glycomacropeptide in PKU-Does It Live Up to Its Potential?Nutrients · 2022Review
- Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) treatment consists of life-long protein restriction and Phe-free medical foods for adequate nutritional intake and growth. A relationship between body composition and blood phenylalanine (Phe) concentrations in subjects with PKU has been proposed but this has not been consistently reported.
methodsDietary intake, lean body mass (LBM) and fat mass (FM) were measured in 30 pediatric subjects with PKU compared to 30 age, and sex matched controls. The relationship between body composition and blood Phe was analyzed within the PKU cohort from clinically collected dried blood spot Phe concentrations.
resultsMale subjects with PKU had less LBM% and more FM% than controls (
conclusionsChildren with PKU face additional dietary challenges maintaining healthy growth and body composition while keeping Phe levels low. We observed higher FM% and lower LBM% in male subjects with PKU. Correlations do not prove cause and effect but suggest a relationship between increased blood Phe, lower synthetic protein intake and increased FM%. Future studies may explore if lower blood Phe concentrations is associated with a lower FM% and higher LBM%; particularly among adult patients now managed on pegvaliase (Palynziq®) who consume normal amounts of natural protein or among younger patients who consume glycomacropeptide (GMP).
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