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

Plasma polyol levels in patients with cataract.

C Jakobs1, A C Douwes, M Brockstedt

  • 1Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands.

Journal of Inherited Metabolic Disease
|January 1, 1990
PubMed
Summary

Elevated plasma galactitol and sorbitol levels are linked to cataracts, even in cases without diagnosed enzyme deficiencies. This suggests potential unknown metabolic aberrations contributing to cataract formation.

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

Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2015
Same author

Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca·2014
Same author

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Journal of inherited metabolic disease·2013
Same author

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal of medical genetics·2013
Same author

D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.

Plant biology (Stuttgart, Germany)·2013
Same author

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

JIMD reports·2013

Area of Science:

  • Biochemistry
  • Ophthalmology
  • Metabolic Disorders

Background:

  • Galactitol and sorbitol are polyols that can accumulate in plasma.
  • Cataracts are a significant cause of visual impairment.

Purpose of the Study:

  • To investigate the relationship between plasma polyol concentrations and cataract formation.
  • To explore potential metabolic causes of cataracts, including enzyme deficiencies and unknown aberrations.

Main Methods:

  • Plasma galactitol and sorbitol levels were measured in patients with and without cataracts.
  • Patients had confirmed deficiencies in enzymes involved in galactose and glucose metabolism.
  • Unexplained congenital/infantile cataracts were also assessed.

Main Results:

Related Experiment Videos

  • Elevated plasma polyols were not always associated with diagnosed enzyme deficiencies and cataracts.
  • However, all cataract patients studied had elevated plasma galactitol or sorbitol.
  • Approximately 45% of patients with unexplained cataracts showed elevated plasma polyols.

Conclusions:

  • Elevated plasma polyols (galactitol, sorbitol) are consistently found in patients with cataracts, irrespective of known enzyme defects.
  • This suggests that unknown metabolic aberrations in galactose or glucose metabolism may contribute to cataractogenesis.
  • Further research is needed to identify these novel metabolic pathways implicated in cataract formation.