Evidence map›Paper›PMID 41318575›Full record

ArticleScientific reports2025

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.

Sohier Yahia, Abdel-Hady El-Gilany, Rofaida M Magdy, Gihan M Bebars, Yossra S Fadle, Heba Dawoud, Nesreen Safwat ELfeil, Mohamed M Moussa, Rawan Assy, Abdelrahim A Sadek and 1 more

Abstract readMulticenter Study
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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Sohier YahiaDepartment of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Abdel-Hady El-GilanyDepartment of Public Health, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Rofaida M MagdyMetabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Gihan M BebarsDepartment of Pediatrics, Faculty of Medicine, Minia University, Minia, Egypt.
Yossra S FadleDepartment of Pediatrics, Faculty of Medicine, Minia University, Minia, Egypt.
Heba DawoudDepartment of Pediatrics, Clinical Genetics Unit, Faculty of Medicine, Tanta University, Tanta, Egypt.
Nesreen Safwat ELfeilDepartment of Pediatrics, Clinical Genetics Unit, Faculty of Medicine, Tanta University, Tanta, Egypt.
Mohamed M MoussaIntern Doctor, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Rawan AssyOral Medicine, Periodontology, Oral Diagnosis and Oral Radiology Department, Faculty of Dentistry, Alexandria University, Alexandria, Egypt.
Abdelrahim A SadekNeuropsychiatry Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Zahraa AbdelmoneimDepartment of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt. hzahraa211@gmail.com.ORCID 0009-0005-3632-6410

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phenylketonuria is the most common heritable metabolic disorder. Early detection through newborn screening and proper nutritional management are essential for preventing neurodevelopmental complications. This study aims to describe the epidemiological profile of PKU in Egypt, assess the impact of early diagnosis, and examine the relationship between dietary adherence and comorbidities, including developmental and growth impairment. This is a multicenter retrospective cross-sectional study conducted in four university hospitals in Egypt between January 2024 and January 2025. A total of 365 patients with PKU aged 0-18 years were included. Data on demographics, phenotype classification, complications, and diet adherence were collected. We found that the most common PKU phenotype was classic PKU (36.3%). Early diagnosis through NBS was reported in 67.7%, and dietary adherence in 79.5%. Developmental delay was significantly lower in early-diagnosed children (3.2%) than in late-diagnosed children (100%). BH4 deficiency (1.6%) was associated with developmental delay and epilepsy despite early diagnosis. Diet adherence was linked to lower phenylalanine levels and fewer complications. Neurodevelopmental problems in PKU were decreased by the national NBS program. Better results depend on early diagnosis, diet adherence, and awareness of BH4 deficiency. Diet non-adherence not only worsens neurodevelopmental outcomes but also negatively affects growth parameters in these children.

Indexed as

PhenylketonuriasAdolescentChildChild, PreschoolCross-Sectional StudiesDevelopmental DisabilitiesEarly DiagnosisEgyptFemaleHumansInfantInfant, NewbornMaleNeonatal ScreeningRetrospective StudiesBH4 deficiencyEpidemiologyMulticenter studyNeurodevelopmental complicationsNewborn screeningPhenylketonuria

Identifiers

PMID41318575
PMCPMC12673136

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