5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

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 PK...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2020-03, Vol.129 (3), p.177-185
Main Authors: 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
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biopterins - analogs & derivatives
Biopterins - pharmacology
Child
Female
Genotype
Humans
Hyperphenylalaninemia
Male
Mutation
Phenylalanine
Phenylalanine - blood
Phenylalanine Hydroxylase - deficiency
Phenylalanine Hydroxylase - genetics
Phenylketonuria
Phenylketonurias - diagnosis
Phenylketonurias - diet therapy
Phenylketonurias - genetics
Phenylketonurias - physiopathology
Retrospective Studies
Standard of Care
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Summary: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 therapy trial. A retrospective chart review was conducted at two U.S. clinics for individuals 10–40 years old diagnosed with PKU-related hyperphenylalaninemia (HPA). Demographics, medical history, treatments and blood Phe data were collected from electronic medical records spanning a five-year period ending in November 2017. 152 patients were enrolled (65.8% had classical PKU). Although >95% of patients were prescribed a Phe-restricted diet, blood Phe concentrations remained substantially elevated, particularly in patients diagnosed with classical PKU. As the Phe threshold was lowered (Phe 
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2019.12.007