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

Ochronotic arthropathy.

K Toth1, E Lenart, G Janositz

  • 1Department of Orthopedics, Bács-Kiskun County Hospital, Kecskemet, Hungary. tothk@kmk.hu

Scandinavian Journal of Rheumatology
|December 24, 2003
PubMed
Summary

This study examines an alkaptonuric family across four generations, detailing clinical manifestations and surgical interventions. It highlights the genetic inheritance and long-term health impacts of alkaptonuria.

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

Colchicine as a therapeutic possibility for the treatment of pulmonary arterial hypertension (PAH) in a rat model.

Biochemical pharmacology·2025
Same author

Discovery of a functionally selective ghrelin receptor (GHSR<sub>1a</sub>) ligand for modulating brain dopamine.

Proceedings of the National Academy of Sciences of the United States of America·2022
Same author

The language of cooperation: reputation and honest signalling.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences·2021
Same author

Electrophysiological and behavioral properties of 4-aminopyridine-induced epileptic activity in mice.

Biologia futura·2021
Same author

Mitochondrial protective effects of PARP-inhibition in hypertension-induced myocardial remodeling and in stressed cardiomyocytes.

Life sciences·2021
Same author

Conservative treatment of periprosthetic femur fractures around metaphyseal short stems - A feasible option?

Trauma case reports·2018

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Orthopedics

Background:

  • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
  • Characterized by deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD).
  • Leads to accumulation of homogentisic acid (HGA) in the body.

Observation:

  • The study investigates 18 individuals from four generations of a single family with AKU.
  • Clinical data and family history were collected to track disease progression.
  • Focus on the prevalence and severity of symptoms within the family lineage.

Findings:

  • All three males in the third generation exhibit clinical signs of AKU.
  • Two family members required major joint surgery due to complications of the disease.
  • The study documents the phenotypic expression of AKU across multiple generations.

Implications:

  • Provides insights into the long-term clinical course and heritability of alkaptonuria.
  • Underscores the significant orthopedic burden associated with untreated AKU.
  • Highlights the need for early diagnosis and management strategies for affected families.

Related Experiment Videos