Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

doi:10.1007/s10545-018-0228-6

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Article

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Journal of inherited metabolic disease - 1 Nov 2018

Shirzadeh Tina, Saeidian Amir Hossein, Bagherian Hamideh, Salehpour Shadab, Setoodeh Aria, Alaei Mohammad Reza, Youssefian Leila, Samavat Ashraf, Touati Andrew, Fallah Mohammad-Sadegh, Vahidnezhad Hassan, Karimipoor Morteza, Azadmehr Sarah, Raeisi Marzieh, Bandehi Sarhadi Ameneh, Zafarghandi Motlagh Fatemeh, Jamali Mojdeh, Zeinali Zahra, Abiri Maryam, Zeinali Sirous

Abstract excerpt

Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency of about one in 10,000 to 15,000 live births. PAH deficiency can be detected by neonatal screening in nearly all cases with hyperphenylalaninemia on a heel prick...

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PMID: 30159852
DOI: 10.1007/s10545-018-0228-6

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