State-of-the-art 2003 on PKU gene therapy

Zhaobing Ding, Cary O. Harding, Beat Thöny

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


Phenylketonuria (or PKU) is a well-known and widespread genetic disease for which many countries perform newborn screening, and life-long dietary restriction is still the ultimate and effective therapy. However, the diet is complicated, unpalatable, and expensive. The long-term effects of diet discontinuation in adults, except for the serious adverse effects of maternal hyperphenylalaninemia upon the developing fetus, have not been systematically studied, but congnitive decline and neurologic abnormalities have been anecdotally reported. Thus, alternative approaches for PKU therapy, including gene therapy, must be further explored. Here we summarize past present nonviral and viral gene transfer approaches, both in vitro studies and preclinical animal trials, to delivering the PAH gene into liver or other organs as potential alternatives to life-long phenylalanine-restricted dietary theraphy.

Original languageEnglish (US)
Pages (from-to)3-8
Number of pages6
JournalMolecular Genetics and Metabolism
Issue number1
StatePublished - Jan 2004


  • GTP cyclohydrolase I
  • Gene therapy
  • Hyperphenylalaninemia
  • Phenylalanine hydroxylase
  • Phenylketonuria
  • Recombinant adeno-associated virus
  • Tetrahydrobiopterin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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