Article
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
Molecular genetics and metabolism - 1 Mar 2020
Levy Harvey, Lamppu Diana, Anastosoaie Vera, Baker Jennifer L, DiBona Kevin, Hawthorne Sarah, Lindenberger Jessica, Kinch Deborah, Seymour Albert, McIlduff Mark, Watling Sharon, Vockley Jerry
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an enzyme that converts phenylalanine (Phe) to tyrosine (Tyr). The purpose of this study was to capture real-world data associated with managing PKU under current standard of care and to characterize a representative population for a planned gene...
Topics
- Adolescent
- Adult
- Biopterins
- Child
- Female
- Genotype
- Humans
- Male
- Mutation
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Retrospective Studies