Journal
MOLECULAR GENETICS AND METABOLISM
Volume 81, Issue 1, Pages 3-8Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2003.09.010
Keywords
phenylketonuria; hyperphenylalaninemia; phenylalanine hydroxylase; tetrahydrobiopterin; GTP cyclohydrolase I; gene therapy; recombinant adeno-associated virus
Funding
- NIDDK NIH HHS [R01 DK059371, R01 DK059371-01] Funding Source: Medline
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK059371] Funding Source: NIH RePORTER
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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. (C) 2003 Elsevier Inc. All rights reserved.
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