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

Cystathioninuria in Down's syndrome.

A Hestnes1, O Borud, H Lunde

  • 1Hallsetheimen Central Institution for mentally retarded, Klaebu, Norway.

Journal of Mental Deficiency Research
|June 1, 1989
PubMed
Summary

This study reports the first documented case of cystathioninuria in individuals with Down syndrome. This finding expands the known associations of cystathioninuria with genetic and developmental conditions.

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

Relative prevalence of upper respiratory tract obstructive disorders in two breeds of harness racehorses (185 cases: 1998-2006).

Equine veterinary journal·2011
Same author

Ropivacaine 1 mg/ml, plus fentanyl 2 microg/ml for epidural analgesia during labour. Is mode of administration important?

Acta anaesthesiologica Scandinavica·2001
Same author

A randomized prospective study of misoprostol and dinoproston for induction of labor.

Acta obstetricia et gynecologica Scandinavica·2000
Same author

Regulation of gamma-glutamyltransferase in cisplatin-resistant and -sensitive colon carcinoma cells after acute cisplatin and oxidative stress exposures.

International journal of cancer·2000
Same author

[Large fetus--a retrospective study].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2000
Same author

Serum amyloid A transcription in Atlantic salmon (Salmo salar L.) hepatocytes is enhanced by stimulation with macrophage factors, recombinant human IL-1 beta, IL-6 and TNF alpha or bacterial lipopolysaccharide.

Developmental and comparative immunology·2000

Area of Science:

  • Biochemistry
  • Clinical Genetics
  • Developmental Pediatrics

Background:

  • Secondary cystathioninuria is a metabolic condition linked to various pathologies, often including intellectual disability.
  • Previous research has documented cystathioninuria in association with numerous conditions, but not specifically in Down syndrome.

Observation:

  • A screening of patients with Down syndrome for aminoaciduria was conducted using thin-layer chromatography.
  • During this screening, a patient exhibiting cystathioninuria was identified.

Findings:

  • This case represents the first documented instance of cystathioninuria in an individual with Down syndrome.
  • The study details the biochemical and clinical findings of this unique case.

Implications:

  • This discovery suggests a potential, previously unrecognized link between Down syndrome and cystathioninuria.
  • Further research is warranted to explore the prevalence and underlying mechanisms of cystathioninuria in the Down syndrome population.

Related Experiment Videos