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

[Program of neonatal screening for phenylketonuria].

V Cornejo1, E Raimann, M Moraga

  • 1Unidad de Neuropsicología, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile.

Revista Chilena De Pediatria
|November 1, 1990
PubMed
Summary

Newborn screening for phenylketonuria (PKU) in Santiago, Chile, identified one classical PKU case and other hyperphenylalaninemia variants. Early detection and management are feasible and reliable for PKU screening programs.

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

Italian Club of Osteosynthesis (CIO): Current Trends in Orthopaedic Trauma Care.

Injury·2024
Same author

EVALUATION OF PREDICTORS OF INEFFECTIVENESS OF ANTIVIRAL THERAPY FOR CHRONIC HEPATITIS C IN THE REPUBLIC OF KAZAKHSTAN: A MATCHED CASE-CONTROL STUDY.

Georgian medical news·2024
Same author

Motor and Cognitive Modulation of a Single Session of Transcutaneous Auricular Vagus Nerve Stimulation in Post Stroke Patients: A Pilot Study.

IEEE open journal of engineering in medicine and biology·2024
Same author

PerBrain: a multimodal approach to personalized tracking of evolving state-of-consciousness in brain-injured patients: protocol of an international, multicentric, observational study.

BMC neurology·2022
Same author

Direct quantification of cytosolic delivery of drug nanocarriers using FlAsH-EDT2.

Nanomedicine : nanotechnology, biology, and medicine·2022
Same author

Does conjugation strategy matter? Cetuximab-conjugated gold nanocages for targeting triple-negative breast cancer cells.

Nanoscale advances·2022

Area of Science:

  • Biochemistry
  • Pediatrics
  • Public Health

Context:

  • A phenylketonuria (PKU) screening program was implemented in Santiago, Chile.
  • The program has been running for 17 months, analyzing 15,214 newborn blood samples.
  • Coverage reached 94.4% of eligible infants.

Purpose:

  • To describe the implementation and outcomes of a newborn screening program for phenylketonuria (PKU).
  • To assess the feasibility and reliability of PKU screening in a metropolitan health service.
  • To identify infants with hyperphenylalaninemia, including classical PKU.

Summary:

  • The Guthrie test was used for screening, identifying two cases of transient hyperphenylalaninemia, one benign hyperphenylalaninemia case, and one classical phenylketonuria case.

Related Experiment Videos

  • Nutritional management was initiated for the classical PKU infant at 13 days of life.
  • The screening program demonstrated convenience, feasibility, and reliability.

    • Impact:

    • Early detection of phenylketonuria allows for timely intervention and management.
    • Successful implementation in Santiago suggests scalability to other regions in Chile.
    • Highlights the importance of newborn screening programs for metabolic disorders.