Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Abstract Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are essential in the BH4 metabolism. This study aims to identify...

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Bibliographic Details
Main Authors: Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
6‐pyruvoyltetrahydropterin synthase
dihydropteridine reductase
novel variant
phenylketonurias
protein modeling
Online Access:https://doi.org/10.1002/mgg3.2081

Internet

https://doi.org/10.1002/mgg3.2081

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