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Recommendations on phenylketonuria in Turkey.
Turgay Coşkun1, Mahmut Çoker2, Neslihan Önenli Mungan3
1Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
The Turkish Journal of Pediatrics
|July 28, 2022
Summary
Phenylketonuria (PKU) management in Turkey requires standardized diagnosis and treatment thresholds. Expert recommendations emphasize early intervention, specific phenylalanine (Phe) level targets, and tailored L-amino acid supplementation for optimal patient outcomes.
Area of Science:
- Genetics and Metabolic Disorders
- Pediatric Medicine
- Clinical Practice Guidelines
Background:
- Phenylketonuria (PKU) is an autosomal recessive disorder impacting phenylalanine (Phe) metabolism.
- Untreated PKU can lead to severe neurocognitive and behavioral deficits.
- This review focuses on pediatric PKU management in Turkey.
Purpose of the Study:
- To review current clinical experiences and expert recommendations for PKU diagnosis, treatment, and follow-up in Turkey.
- To address identified management gaps in pediatric PKU care.
- To formulate evidence-based statements for PKU management.
Main Methods:
- Convened advisory board meetings with four leading experts in 2016 and 2017.
- Conducted an online update meeting in January 2021 for final consensus.
- Reviewed Turkish and international literature on PKU management.
Main Results:
- Recommended diagnostic cut-off for dried blood spots at 2 mg/dl and treatment cut-off at 6 mg/dl.
- Advocated for age-related safe protein intake with L-amino acid supplements, including compensatory factors.
- Stressed the importance of regular cognitive evaluations and specific phenylalanine targets for pregnant women (< 5 mg/dl).
Conclusions:
- Standardizing diagnostic and treatment thresholds is crucial for long-term PKU management.
- Early diagnosis and initiation of treatment are paramount.
- PKU follow-up is an evolving process requiring dynamic clinical practice adjustments.
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