Abstract
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 language | English (US) |
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Pages (from-to) | 97-104 |
Number of pages | 8 |
Journal | Clinical Genetics |
Volume | 74 |
Issue number | 2 |
DOIs | |
State | Published - Aug 2008 |
Keywords
- Cell transplantation
- Gene therapy
- Phenylalanine
- Phenylketonuria
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)