Progress toward cell-directed therapy for phenylketonuria

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34 Scopus citations


Phenylketonuria (PKU) is one of the most common inborn errors of metabolism with an annual incidence of approximately 1:16,000 live births in North America. Contemporary therapy relies upon lifelong dietary protein restriction and supplementation with phenylalanine-free medical foods. This therapy is expensive and unpalatable; dietary compliance is difficult to maintain throughout life. Non-adherence to the diet is associated with learning disabilities, adult-onset neurodegenerative disease, and maternal PKU syndrome. The fervent dream of many individuals with PKU is a more permanent cure for this disease. This paper will review ongoing efforts to develop viable cell-directed therapies, in particular cell transplantation and gene therapy, for the treatment of PKU.

Original languageEnglish (US)
Pages (from-to)97-104
Number of pages8
JournalClinical Genetics
Issue number2
StatePublished - Aug 2008


  • Cell transplantation
  • Gene therapy
  • Phenylalanine
  • Phenylketonuria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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