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

Primary hyperoxaluria type 2: enzymology

C F Giafi1, G Rumsby

  • 1Department of Molecular Pathology, University College London Medical School, United Kingdom.

Journal of Nephrology
|May 30, 1998
PubMed
Summary

Primary hyperoxaluria type 2 (PH2) is linked to D-glycerate dehydrogenase (D-GDH) deficiency. A new microassay for D-GDH and glyoxylate reductase (GR) aids in diagnosing PH2 using liver biopsies.

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

Rapid liquid chromatography tandem mass-spectrometry screening method for urinary metabolites of primary hyperoxaluria.

Annals of clinical biochemistry·2018
Same author

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

The Journal of clinical endocrinology and metabolism·2006
Same author

A preliminary account of the properties of recombinant human Glyoxylate reductase (GRHPR), LDHA and LDHB with glyoxylate, and their potential roles in its metabolism.

Biochimica et biophysica acta·2005
Same author

Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?

Hormone research·2004
Same author

17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.

Hormone research·2002
Same author

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Molecular genetics and metabolism·2001

Area of Science:

  • Biochemistry
  • Enzymology
  • Metabolic Disorders

Background:

  • Primary hyperoxaluria type 2 (PH2) is a genetic disorder.
  • It is associated with deficiency of D-glycerate dehydrogenase (D-GDH), an enzyme with glyoxylate reductase (GR) activity.

Purpose of the Study:

  • To establish the reaction kinetics of human liver D-GDH/GR.
  • To develop a microassay for measuring D-GDH and GR activities in liver biopsies.
  • To investigate the tissue distribution of D-GDH and GR activities.

Main Methods:

  • Enzyme kinetics studies were performed on human liver samples.
  • A microassay was developed for quantifying D-GDH and GR activities.
  • Tissue distribution studies were conducted on various human tissues.

Main Results:

  • Reaction kinetics for human liver D-GDH/GR were established.
  • A sensitive microassay for D-GDH and GR was developed and validated.
  • Tissue distribution revealed that the D-GDH activity associated with GR is primarily found in the liver.

Conclusions:

  • The developed microassay is valuable for diagnosing PH2.
  • Findings suggest the presence of multiple D-GDH forms in human tissues.
  • The liver-specific GR-associated D-GDH is crucial for PH2 diagnosis and potential treatment strategies.

Related Experiment Videos