Article
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Human genomics - 21 Feb 2026
Karaca Meryem, Gedikbasi Asuman, Selamioğlu Arzu, Yesil Alihan, Toksoy Guven, Gulec Cagri, Balci Mehmet Cihan, Güneş Dilek, Yıldırım Behiye Tuğçe, Kına Gizem, Karaman Volkan, Aslanger Ayca Dilruba, Karaman Birsen, Demirkol Mubeccel, Uyguner Zehra Oya, Gokcay Gulden Fatma
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disorder caused by PAH alterations, leading to elevated phenylalanine (Phe) and neurotoxicity. Newborn screening (NBS) and early therapy improve outcomes. This study aimed to characterize the molecular and phenotypic spectrum of PKU, explore genotype–phenotype correlations, and evaluate the relationship between PAH variants and BH4 responsiveness to...
Topics
- Humans
- Phenylketonurias
- Biopterins
- Genetic Association Studies
- Phenylalanine Hydroxylase
- Infant, Newborn
- Female
- Male
- Neonatal Screening
- Phenotype