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         Ochronosis:     more detail
  1. Ochronosis
  2. Exogenous ochronosis.(CASE REPORTS): An article from: Journal of Drugs in Dermatology by M. Huerta Brogeras, M. Sanchez-Viera, 2006-01-01
  3. Alkaptonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Margaret, PhD Alic, 2005

21. Ochronosis Definition - Medical Dictionary Definitions Of Popular Medical Terms
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=39943

22. Alkaptonuria
Alkaptonuric ochronosis; Hereditary Alkaptonuria; Homogentisic Acid Oxidase connective tissue and bone, creating a condition called ochronosis.
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Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Alkaptonuria Important It is possible that the main title of the report Alkaptonuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis
Disorder Subdivisions
  • None
General Discussion Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life. The condition is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine. Resources CLIMB (Children Living with Inherited Metabolic Diseases)

23. Dr. Koop - Alkaptonuria
Alcaptonuria; Homogentisic acid oxidase deficiency; ochronosis. Causes, incidence,and risk factors. Alkaptonuria is an autosomal recessive inherited
http://www.drkoop.com/ency/93/001200.html
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Alkaptonuria
Definition: Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood.
Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis
Causes, incidence, and risk factors: Alkaptonuria is an autosomal recessive inherited disorder. In affected individuals, an amino acid known as tyrosine is not properly metabolized, due to a defect in an enzyme called homogentisic acid oxidase. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored.
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24. AllRefer Health - Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficien
Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, ochronosis)information center covers causes, prevention, symptoms, diagnosis, treatment,
http://health.allrefer.com/health/alkaptonuria-info.html

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Alternate Names : Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis Definition Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alkaptonuria is an autosomal recessive inherited disorder. In affected individuals, an amino acid known as tyrosine is not properly metabolized, due to a defect in an enzyme called homogentisic acid oxidase.

25. AllRefer Health - Alkaptonuria Treatment (Alcaptonuria, Homogentisic Acid Oxidas
Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, ochronosis)information center covers Treatment.
http://health.allrefer.com/health/alkaptonuria-treatment.html

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Alternate Names : Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis Alkaptonuria Treatment Some patients benefit from high-dose vitamin C. This has been shown to decrease the build up of brown pigment in the cartilage, which may slow the rate of development of arthritis.
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Alkaptonuria Treatment Alkaptonuria Prognosis Alkaptonuria Complications Calling Your Health Care Provider Topics that might be of interest to you Arthritis Urinalysis Other Topics Autosomal Recessive Enzyme Metabolism Sclera Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

26. Alkaptonuria
hereditary disorder in which homogentisic acid accumulates in the body anddestroys connective tissue and bone, creating a condition called ochronosis.
http://www.bchealthguide.org/kbase/nord/nord23.htm
var hwPrint=1;var hwDocHWID="nord23";var hwDocTitle="Alkaptonuria";var hwRank="1";var hwSectionHWID="nord23-Header";var hwSource="en-caQ2_05";var hwDocType="Nord";
National Organization for Rare Disorders, Inc.
Alkaptonuria
Important
It is possible that the main title of the report Alkaptonuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis
Disorder Subdivisions
  • None
General Discussion
Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life. The condition is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
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27. Penn State Faculty Research Expertise Database (FRED)
, A disease in which the metabolic products of phenylalanineand tyrosine accumulate, resulting in the deposition of HOMOGENTISIC......ochronosis.
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009794

28. LearningRadiology-Ochronosis
Bone Cardiac Chest GI Miscellaneous Med Students Most Common Lists Quizzes . ochronosis Alkaptonuria. Rare hereditary disorder
http://www.learningradiology.com/notes/bonenotes/ochronosispage.htm
Home Lectures Notes Images ... Quizzes Ochronosis
Alkaptonuria
  • Rare hereditary disorder
    • More common in males 2:1
    Insufficiency of homogentisic acid oxidase Results in excessive homogentisic acid excreted in urine and deposited in soft tissue Urine may be “black” Sclera may be grey-brown or yellow Cartilage of nose and ears may be bluish in color Clinical findings are combination of spondylitis and arthritis of major joints
    • When deposited in cartilage, synovial thickening develops This results in:
      • Subchondral cysts Sclerosis Osteophyte production, all secondary to DJD Bony ankylosis may occur in joints or spine
      Usually affects large joints-knees, shoulders, hips Chondrocalcinosis of appendicular joints may develop
    In the spine:
    • Changes of degenerative disc disease Ligamentous structures mat be involved Resembles ankylosis spondylitis Universal disc space calcification is common
    Universal disc calcification and DJD of root joints (hips and shoulders) in younger patient are pathognomonic
Murray and Jacobson, 2

29. LearningRadiology - Ochronosis
Return to Case. ochronosis Alkaptonuria. Rare hereditary disorder. More commonin males 21. Insufficiency of homogentisic acid oxidase
http://www.learningradiology.com/archives/COW 025-Ochronosis/ochronosiscorrect.h
Home Lectures Notes Images ... Return to Case Ochronosis
Alkaptonuria
  • Rare hereditary disorder
    • More common in males 2:1
    Insufficiency of homogentisic acid oxidase Results in excessive homogentisic acid excreted in urine and deposited in soft tissue Urine may be “black” Sclera may be grey-brown or yellow Cartilage of nose and ears may be bluish in color Clinical findings are combination of spondylitis and arthritis of major joints
    • When deposited in cartilage, synovial thickening develops This results in:
      • Subchondral cysts Sclerosis Osteophyte production, all secondary to DJD Bony ankylosis may occur in joints or spine
      Usually affects large joints-knees, shoulders, hips Chondrocalcinosis of appendicular joints may develop
    In the spine:
    • Changes of degenerative disc disease Ligamentous structures mat be involved Resembles ankylosis spondylitis Universal disc space calcification is common
    Universal disc calcification and DJD of root joints (hips and shoulders) in younger patient are pathognomonic
Murray and Jacobson, 2

30. Ochronosis
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OCHRONOSIS.asp

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31. Ochronosis
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/OCHRONOSIS.asp

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our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Ochronosis, the bluish-black pigmentation occurring in connective tissue of patients with alkaptonuria . The deposition of the pigment results in characteristic joint abnormalities termed ochronotic arthropathy (see alkaptonuria
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32. Ochronosis Topic - Unified Search Environment
ochronosis the pathologic accumulation of a blueblack pigment in the WHY The great majority of patients with ochronosis eventually develop an
http://www.use.hcn.com.au/portals/shared/subject.`Ochronosis`/home.html
Ochronosis Topic Tree Definition:
Synonyms and Source Vocabularies:

Ochronosis
Alkaptonuric ochronosis Nutritional and Metabolic Diseases

33. Netter Medical Images - Search Results For Alkaptonuric Ochronosis
SEARCH RESULTS. 2 IMAGES IN SELECTION PAGE 1 OF 1 REFINE YOUR SEARCH ALL LABELED UNLABELED ochronosis ochronosis ochronosis ochronosis
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34. ► Alkaptonuria
Alcaptonuria; Homogentisic acid oxidase deficiency; ochronosis dark pigmentwith an ochre color (earthy red or yellow) which led to the name ochronosis.
http://www.umm.edu/ency/article/001200.htm
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Alkaptonuria
Overview Symptoms Treatment Prevention Definition: Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood.
Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis
Causes, incidence, and risk factors: Alkaptonuria is an autosomal recessive inherited disorder. It is a disorder of tyrosine (an amino acid) metabolism resulting from a defect in the enzyme homogentisic acid oxidase. Homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow) which led to the name ochronosis. The bones and cartilage of the body can be brown colored.
Review Date: 10/26/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

35. Cutaneous Markers In Ochronosis Isaac Jebaraj, Rao A - Indian J Med Sci
The journal is owned by the Indian Journal of Medical Sciences Trust, a registeredcharitable organisation.
http://www.indianjmedsci.org/article.asp?issn=0019-5359;year=2005;volume=59;issu

36. Cutaneous Markers In Ochronosis Isaac Jebaraj
Cutaneous markers in ochronosis Isaac Jebaraj1, Rao A2 1 Departments of Orthopaedics,Christian Medical College, Vellore, Tamilnadu 632 004, India
http://www.indianjmedsci.org/article.asp?issn=0019-5359;year=2005;volume=59;issu

37. Ochronosis - General Practice Notebook
The term ochronosis is used to describe the darkening of tissues as a consequenceof accumulation of homogentisic acid polymer in cartilage.
http://www.gpnotebook.co.uk/cache/-1174011904.htm
ochronosis The term ochronosis is used to describe the darkening of tissues as a consequence of accumulation of homogentisic acid polymer in cartilage. It occurs in alkaptonuria.
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38. Ocular Ochronosis In Alkaptonuria Patients Carrying Mutations In The Homogentisa
Despite striking features of ochronosis, the diagnosis of alkaptonuria had never In the present report, ocular ochronosis prompted the diagnosis of a
http://bjo.bmjjournals.com/cgi/content/full/83/6/680

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Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Felbor, U. Articles by Kress, W. Related Collections Ophthalmology Br J Ophthalmol 680-683 ( June )
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Ute Felbor a Yvonne Mutsch a Franz Grehn a b Wolfram Kress b a b
Accepted for publication 6 January 1999
Abstract Top
Abstract
Introduction
Patients and methods
Results
Discussion References AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva

39. Ocular Ochronosis In Alkaptonuria Patients Carrying Mutations In The Homogentisa
Pigmented Conjunctival Lesions as Initial Manifestation of ochronosis ArchOphthalmol, July 1, 2004; 122(7) 1060 1063. Full Text PDF
http://bjo.bmjjournals.com/cgi/content/abstract/83/6/680

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HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author
Keyword(s)
Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Felbor, U. Articles by Kress, W. Related Collections Ophthalmology Br J Ophthalmol 680-683 ( June )
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Ute Felbor a Yvonne Mutsch a Franz Grehn a b Wolfram Kress b a b
Accepted for publication 6 January 1999
AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and

40. EURORAD
ochronosis is the musculoskeletal manifestation of alkaptonuria. Choudhury R,Rajamani SS, Rajshekhar V. A case of ochronosis MRI of the lumbar spine.
http://www.eurorad.org/eurorad/case.php?id=1377

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