Genotype–phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design

Abstract 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...

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Autors principals:	Meryem Karaca, Asuman Gedikbasi, Arzu Selamioğlu, Alihan Yesil, Guven Toksoy, Cagri Gulec, Mehmet Cihan Balci, Dilek Güneş, Behiye Tuğçe Yıldırım, Gizem Kına, Volkan Karaman, Ayca Dilruba Aslanger, Birsen Karaman, Mubeccel Demirkol, Zehra Oya Uyguner, Gulden Fatma Gokcay
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-02-01
Col·lecció:	Human Genomics
Matèries:	Phenylketonuria PAH gene Newborn screening MLPA BH4 loading test BH4 treatment
Accés en línia:	https://doi.org/10.1186/s40246-026-00936-9
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