Progress toward cell-directed therapy for phenylketonuria

Research output: Contribution to journalArticle

30 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)97-104
Number of pages8
JournalClinical Genetics
Volume74
Issue number2
DOIs
StatePublished - Aug 2008

Fingerprint

Phenylketonurias
Cell- and Tissue-Based Therapy
Maternal Phenylketonuria
Inborn Errors Metabolism
Dietary Proteins
Learning Disorders
Cell Transplantation
Live Birth
Dietary Supplements
North America
Phenylalanine
Neurodegenerative Diseases
Genetic Therapy
Therapeutics
Diet
Food
Incidence

Keywords

  • Cell transplantation
  • Gene therapy
  • Phenylalanine
  • Phenylketonuria

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Progress toward cell-directed therapy for phenylketonuria. / Harding, Cary.

In: Clinical Genetics, Vol. 74, No. 2, 08.2008, p. 97-104.

Research output: Contribution to journalArticle

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