Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
9.1
5.0
Journals
Nutrients
Special Issues
Dietary Practices and Dietary Treatment in Phenylketonuria
nutrients-logo
Submit to Special Issue Submit Abstract to Special Issue Review for Nutrients Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Dietary Practices and Dietary Treatment in Phenylketonuria

A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Clinical Nutrition".

Deadline for manuscript submissions: 25 February 2026 | Viewed by 2200

Special Issue Editors

Dr. Luis Aldámiz-Ecehvarría

E-Mail Website
Guest Editor
1. Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM)—AECOM&Sociedad, 28221 Majadahonda, Spain
2. Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago, Spain
Interests: pediatrics; rare metabolic diseases; biomarkers; metabolomics; diagnostics
Prof. Dr. María Luz Couce

E-Mail Website
Guest Editor
1. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, IDIS, Santiago, Spain
2. Department of Pediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain
Interests: nutrition; inborn errors of metabolism; neonatology
Special Issues, Collections and Topics in MDPI journals
Dr. Consuelo Pedrón Giner

E-Mail Website
Guest Editor
Asociación Española para el estudio de los Errores Congénitos del Metabolismo (AECOM), 28221 Majadahonda, Spain
Interests: clinical nutrition; nutritional medicine; assessment human nutrition; nutritional and metabolic diseases; applied nutrition; nutrients; gastroenterology

Special Issue Information

Dear Colleagues,

We are pleased to announce the call for papers for a Special Issue on “Dietary Practices and Dietary Treatment in Phenylketonuria”. This Special Issue aims to collect and disseminate innovative research and clinical practices addressing the challenges and advancements in managing this genetic condition through dietary approaches.

Topics of interest include the following:

  • Effective dietary management strategies for phenylketonuria;
  • Advances in dietary treatment and nutritional therapies;
  • Impact of diet on patients' quality of life;
  • Case studies and clinical experiences;
  • Patient education and support for dietary adherence.

We look forward to your contributions and appreciate your participation in advancing the knowledge and treatment of phenylketonuria through dietary practices.

Dr. Luis Aldámiz-Ecehvarría
Prof. Dr. María Luz Couce
Dr. Consuelo Pedrón Giner
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Nutrients is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • phenylketonuria
  • nutrition
  • clinical practice
  • nutritional assessment
  • comorbidities
  • quality of life
  • nutritional adherence
  • patient-reported outcome measure (proms)

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

12 pages, 1242 KB  
Article
Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study
by Lizbeth López-Mejía, Sara Guillén-López, Marcela Vela-Amieva, Cynthia Fernández-Lainez and Lilian Castro-Monroy
Nutrients 2025, 17(17), 2851; https://doi.org/10.3390/nu17172851 - 2 Sep 2025
Viewed by 1062
Abstract
Background/Objectives: Dietary treatment in phenylketonuria consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free medical formula (Phe-FF). During the first six months of life, phenylalanine requirements can be met with breast milk (BM) or infant formula (IF). Despite all the benefits breastfeeding confers, [...] Read more.
Background/Objectives: Dietary treatment in phenylketonuria consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free medical formula (Phe-FF). During the first six months of life, phenylalanine requirements can be met with breast milk (BM) or infant formula (IF). Despite all the benefits breastfeeding confers, it is often discontinued upon diagnosis of phenylketonuria, so more evidence is needed to support it. This study aimed to compare the assessments of nutritional status and metabolic control in infants with hyperphenylalaninemia/phenylketonuria who received BM, IF, or a combination of both as sources of intact protein, in addition to Phe-FF. Methods: A retrospective observational study was conducted in hyperphenylalaninemia/phenylketonuria patients between 0 and 6 months of age. Three groups were compared depending on the source of intact protein ingested: (1) BM + Phe-FF; (2) IF + Phe-FF; (3) mixture of BM and IF (BM + IF + Phe-FF). At each clinic visit, an anthropometric assessment and phenylalanine blood levels were analyzed. Results: 185 nutritional and metabolic assessments were included. The lowest median phenylalanine blood concentration was observed in the BM + Phe-FF group (129 µmol/L, interquartile range [IQR]: 39.5–232.5). In the BM + Phe-FF group all assessments were classified as eutrophic: −0.09 (SD ± 0.78); a statistically significant difference was observed between the BMI Z-Score of BM + Phe-FF and BM + IF-Phe-FF (p = 0.036). No statistically significant differences were observed in length/age Z-Score. Conclusions: Our results indicate that BM is the best option as a source of intact protein for children under 6 months of age with hyperphenylalaninemia/phenylketonuria, to maintain an adequate nutritional status and metabolic control. Full article
(This article belongs to the Special Issue Dietary Practices and Dietary Treatment in Phenylketonuria)
►▼ Show Figures

Figure 1

20 pages, 275 KB  
Article
Global Clinical Practice in Transitioning Protein Substitutes for Children with Phenylketonuria
by Ozlem Yilmaz Nas, Catherine Ashmore, Sharon Evans, Alex Pinto, Anne Daly, Nurcan Yabancı Ayhan and Anita MacDonald
Nutrients 2025, 17(16), 2650; https://doi.org/10.3390/nu17162650 - 15 Aug 2025
Viewed by 808
Abstract
Background: Protein substitutes are essential in the dietary management of phenylketonuria (PKU). Transition from first-stage phenylalanine (Phe)-free infant formula to second- and third-stage protein substitutes is carefully managed to meet a child’s evolving nutritional needs, feeding abilities, and developmental progression. However, clinical protocols, [...] Read more.
Background: Protein substitutes are essential in the dietary management of phenylketonuria (PKU). Transition from first-stage phenylalanine (Phe)-free infant formula to second- and third-stage protein substitutes is carefully managed to meet a child’s evolving nutritional needs, feeding abilities, and developmental progression. However, clinical protocols, product access, and reimbursement vary globally. This study assessed international transition practices. Methods: A cross-sectional online survey explored health professionals’ practices on transition timing, influencing factors, product forms, casein-glycomacropeptide (cGMP) use, and perceived barriers and facilitators. Results: A total of 106 professionals from 32 countries participated: Europe (67%), Asia (12%), North America (10%), South America (8%), and Oceania (3%). Dietitians led transitions in 83% of centers. First-stage Phe-free infant formula was typically discontinued at 1–2 years (66%). Second-stage substitutes were introduced at 6–12 months in Europe (61%) and Oceania (100%), but after age one in Asia (69%), North America (72%), and South America (100%). Influencing factors included weaning alignment (46%) and nutritional needs (42%). Semi-solids were preferred in Europe (56%) and Oceania (67%), while powdered drinks dominated in Asia (62%), North America (82%), and South America (100%). Third-stage protein substitutes were introduced at 3–5 years (45%), with later transitions more common in South America (88%) and North America (63%). Ready-to-drink forms were frequent in Oceania (100%), Asia (92%), and Europe (85%). cGMP was prescribed by 61%, mainly guided by preference, Phe tolerance, and adherence; 26% reported no access. Key facilitators for transition included motivation (79%) and sensory properties (69%); barriers included aversion (70%) and poor taste/texture (69%). School involvement was reported by 32%. Conclusions: Protein substitute transition practices in PKU vary globally. International guidance and equitable product access are needed. Full article
(This article belongs to the Special Issue Dietary Practices and Dietary Treatment in Phenylketonuria)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop