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

Asymptomatic hereditary xanthinuria: a case report.

A Nagae1, E Murakami, K Hiwada

  • 1Second Department of Internal Medicine, Ehime University School of Medicine, Japan.

Japanese Journal of Medicine
|May 1, 1990
PubMed
Summary

Hereditary xanthinuria, a rare genetic disorder, was studied in a patient with significantly elevated xanthine and hypoxanthine levels. Biochemical analysis confirmed deficient xanthine oxidase activity, indicating a homozygous genetic defect.

Related Experiment Videos

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

Nutritional factors affecting length of hospital stay in patients undergoing cardiovascular surgery.

Die Pharmazie·2020
Same author

The nucleoside analog GS-441524 strongly inhibits feline infectious peritonitis (FIP) virus in tissue culture and experimental cat infection studies.

Veterinary microbiology·2018
Same author

Emergence of resistant variants detected by ultra-deep sequencing after asunaprevir and daclatasvir combination therapy in patients infected with hepatitis C virus genotype 1.

Journal of viral hepatitis·2014
Same author

Ribavirin dose reduction during telaprevir/ribavirin/peg-interferon therapy overcomes the effect of the ITPA gene polymorphism.

Journal of viral hepatitis·2014
Same author

Human microRNA hsa-miR-1231 suppresses hepatitis B virus replication by targeting core mRNA.

Journal of viral hepatitis·2014
Same author

In patients with ulcerative colitis, adsorptive depletion of granulocytes and monocytes impacts mucosal level of neutrophils and clinically is most effective in steroid naïve patients.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2008

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Xanthinuria is a rare inherited metabolic disorder.
  • It is characterized by deficient xanthine oxidase activity, leading to elevated xanthine levels.
  • This deficiency results in the deposition of xanthine crystals in tissues and the urinary tract.