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

[Alkaptonuria-ochronosis].

J Hortobágyi1, B Sebök, E Zombai

  • 1Pécsi Orvostudományi Egyetem Börgyógyászati Klinika.

Orvosi Hetilap
|January 19, 1992
PubMed
Summary
This summary is machine-generated.

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

No significant increase within a 3-year interval in the prevalence of atopic dermatitis among schoolchildren in Baranya County, Hungary.

Journal of the European Academy of Dermatology and Venereology : JEADV·2007
Same author

Familiar and environmental factors influencing atopic dermatitis in the childhood.

Journal of the European Academy of Dermatology and Venereology : JEADV·2006
Same author

Florid cutaneous papillomatosis leading to social exclusion.

The British journal of dermatology·2005
Same author

Enhancement of the antiparakeratotic potency of calcitriol and tacalcitol in liposomal preparations in the mouse tail test.

Skin pharmacology and applied skin physiology·2001
Same author

[Bilateral, asymmetric herpes zoster (herpes zoster duplex asymmetricus)].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2001
Same author

Complete recovery from juvenile pemphigus vulgaris.

Pediatric dermatology·2001

This case study highlights a rare genetic disorder, alkaptonuria (also known as congenital ochronosis), presenting with urine discoloration and ochronosis. Early diagnosis is crucial for managing associated skeletal complications.

Area of Science:

  • Biochemistry
  • Genetics
  • Medical Case Study

Background:

  • Alkaptonuria is a rare autosomal recessive metabolic disorder.
  • It results from a deficiency in the enzyme homogentisate 1,2-dioxygenase.
  • This leads to the accumulation of homogentisic acid in the body.

Observation:

  • A 40-year-old female presented with lifelong black-discolored urine staining underwear.
  • Blue-black skin pigmentation of axillae and ear pinnae developed over a year.
  • The patient experienced increasing thoracic and lumbar spinal pain and limited motion.

Findings:

  • Urine analysis, histological, and electron microscopy confirmed homogentisic acid accumulation.
  • X-ray imaging revealed spinal column abnormalities consistent with ochronosis.

Related Experiment Videos

  • The constellation of symptoms led to the diagnosis of alkaptonuria/congenital ochronosis.

    • Implications:

    • This case underscores the importance of recognizing the clinical manifestations of alkaptonuria.
    • Early identification can guide management of skeletal complications and joint degeneration.
    • Further research into therapeutic interventions for alkaptonuria is warranted.