Global Clinical Practice in Transitioning Protein Substitutes for Children with Phenylketonuria

Yilmaz Nas O., Ashmore C., Evans S., Pinto A., Daly A., YABANCI AYHAN N., ...Daha Fazla

Nutrients, cilt.17, sa.16, 2025 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 16
  • Basım Tarihi: 2025
  • Doi Numarası: 10.3390/nu17162650
  • Dergi Adı: Nutrients
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • Anahtar Kelimeler: international survey, phenylketonuria, protein substitute, transition
  • Ankara Üniversitesi Adresli: Evet

Özet

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.