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

Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'.

W B Hanley1, C Azen, R Koch

  • 1PKU Programme, Hospital for Sick Children, Toronto, Ontario, Canada. whanley@sickkids.ca

Journal of Inherited Metabolic Disease
|October 27, 2004
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

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Molecular genetics and metabolism·2025
Same author

Patient's thoughts and expectations about centres of expertise for PKU.

Orphanet journal of rare diseases·2021
Same author

Correction to: PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases·2020
Same author

PKU dietary handbook to accompany PKU guidelines.

Orphanet journal of rare diseases·2020
Same author

Development of a delayed-release nutrient for appetite control in adults with obesity and type 2 diabetes and initial clinical testing in a single dose randomized controlled trial.

Nutrition & diabetes·2019
Same author

Brentuximab vedotin and ESHAP is highly effective as second-line therapy for Hodgkin lymphoma patients (long-term results of a trial by the Spanish GELTAMO Group).

Annals of oncology : official journal of the European Society for Medical Oncology·2019

Maternal Phenylketonuria Collaborative Study (MPKUCS) found that poor metabolic control during pregnancy led to lower intelligence quotient (IQ) in offspring. Some outliers suggest modifier genes may influence fetal development despite high phenylalanine levels.

Area of Science:

  • Genetics
  • Neuroscience
  • Metabolic Disorders

Background:

  • Maternal Phenylketonuria (PKU) poses risks to fetal neurodevelopment.
  • Adequate metabolic control during pregnancy is crucial for offspring outcomes.
  • Previous studies highlight the impact of maternal phenylalanine levels on infant IQ.

Purpose of the Study:

  • Investigate intellectual outcome outliers in offspring from the Maternal Phenylketonuria Collaborative Study (MPKUCS).
  • Determine if incomplete data or biological variants explain intellectual performance discrepancies.
  • Explore the potential role of modifier genes in fetal protection during maternal PKU.

Main Methods:

  • Analysis of outcome data from 305 offspring in the MPKUCS and 70 control offspring.
  • Assessment of intelligence quotient (IQ) using the Wechsler Intelligence Scale for Children--Revised (WISC-R).

Related Experiment Videos

  • Identification and investigation of intellectual 'outliers' (better or worse than expected IQ).

    • Main Results:

    • Significant IQ deficits observed in offspring with delayed/inadequate maternal metabolic control.
    • Ten offspring showed worse-than-expected IQ, with additional complications identified.
    • Thirteen offspring exhibited better-than-expected IQ; four had mothers with mild PKU variants, nine remained unexplained.

    Conclusions:

    • While poor maternal metabolic control negatively impacts offspring IQ, biological variations exist.
    • Modifier genes are hypothesized to protect fetuses from high maternal phenylalanine levels.
    • Further research into genetic modifiers could inform PKU treatment strategies.