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Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

22 Jan 2019

Abstract excerpt

Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in Russia.Genotype data of patients with PKU can be used to predict their sensitivity to BH4 therapy. A cohort of 2579 patients with PKU from Russia was analyzed for 25...

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PMID: 30668579
DOI: 10.1371/journal.pone.0211048

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