Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Gene therapy for phenylketonuria

R C Eisensmith1, S L Woo

  • 1Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA.

European Journal of Pediatrics
|July 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A novel system for the production of fully deleted adenovirus vectors that does not require helper adenovirus.

Gene therapy·2001
Same author

An immunomodulatory procedure that stabilizes transgene expression and permits readministration of E1-deleted adenovirus vectors.

Molecular therapy : the journal of the American Society of Gene Therapy·2001
Same author

Stabilization of transgenes delivered by recombinant adenovirus vectors through extrachromosomal replication.

The journal of gene medicine·2001
Same author

Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.

Pediatric research·1999
Same author

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

European journal of human genetics : EJHG·1999
Same author

Engineering the healing of the rabbit medial collateral ligament.

Medical & biological engineering & computing·1998
Same journal

Cost-benefit analysis of nirsevimab for respiratory syncytial virus prevention in infants: a population-based study.

European journal of pediatrics·2026
Same journal

Consensus statement on the use of standardized early mobilization in pediatric patients admitted to pediatric intensive care units in Italy.

European journal of pediatrics·2026
Same journal

Ultrasound-guided midline catheters in the neonatal intensive care unit: a single-center pilot study.

European journal of pediatrics·2026
Same journal

Gastrointestinal pathogens in paediatric patients with diarrhoea during the COVID-19 pandemic in Spain: a multicentre molecular-based prospective study.

European journal of pediatrics·2026
Same journal

Low serum immunoglobulin levels in pediatric atopic dermatitis: association with disease severity and exploratory scores.

European journal of pediatrics·2026
Same journal

Safely developing respiratory care during emergency neonatal transport through systematic collection and analysis of detailed ventilator data.

European journal of pediatrics·2026
See all related articles

Somatic gene therapy shows promise for phenylketonuria (PKU), a metabolic disorder. Adenoviral vectors successfully restored phenylalanine hydroxylase (PAH) activity in mice, normalizing crucial levels.

Area of Science:

  • Biochemistry
  • Genetics
  • Medical Research

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder.
  • Current dietary management for PKU has limitations.
  • Somatic gene therapy is being explored as a novel treatment.

Purpose of the Study:

  • To evaluate different vector systems for somatic gene transfer in PKU.
  • To assess the efficacy of gene therapy in correcting phenylalanine hydroxylase (PAH) deficiency.

Main Methods:

  • In vitro transduction of PAH cDNA into hepatocytes using retroviral and DNA/protein complex vectors.
  • In vivo administration of recombinant adenoviral vectors to PAH-deficient mice.
  • Measurement of hepatic PAH activity and serum phenylalanine levels.

Related Experiment Videos

Main Results:

  • Retroviral and DNA/protein vectors showed efficient in vitro transduction but limited in vivo efficiency.
  • Adenoviral vectors restored 10%-80% of normal hepatic PAH activity in mice.
  • Adenoviral vector treatment normalized serum phenylalanine levels in treated mice.
  • Adenoviral vector treatment was transient and limited re-administration due to antibody response.

Conclusions:

  • Somatic gene therapy, particularly with adenoviral vectors, can effectively correct PKU.
  • Further development of adenoviral vectors is needed to overcome transient effects and antibody responses.
  • Gene therapy holds significant potential for treating phenylketonuria.