21. Alkaptonuria (ochronosis) Alkaptonuria (ochronosis). Cases. Case Title, Source. ochronosis, OSTEOARTHRITIS,CALCIFICATIONS OF THE INTERVERTEBRAL DISCS, Faculté de Médecine de Rennes. http://www.gentili.net/diaglist.asp?Id=.595&Diag=Alkaptonuria (ochronosis)

22. LearningRadiology-Ochronosis ochronosis Alkaptonuria. Rare hereditary disorder More common inmales 21. Insufficiency of homogentisic acid oxidase. Results in http://www.learningradiology.com/notes/bonenotes/ochronosispage.htm

Home Lectures Notes Images ... Most Common Lists 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

23. LearningRadiology-Ochronosis ochronosis Alkaptonuria. Return to case. Rare hereditary disorderMore common in males 21. Insufficiency of homogentisic acid oxidase. http://www.learningradiology.com/archives/COW 025-Ochronosis/ochronosisccorrect.

Home Lectures Notes Images ... Most Common Lists Ochronosis Alkaptonuria Return to case 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

24. Arch Ophthalmol -- Page Not Found 118;724725, May 2000, Ocular Manifestations of Alkaptonuric ochronosis, JordanCheskes, MD; Helmut Buettner, MD. The pathology of alkaptonuric ochronosis. http://archopht.ama-assn.org/issues/v118n5/ffull/epe90067-1.html

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25. Alkaptonuria And Ochronosis Receive HealthLink via email! Subscribe now . Alkaptonuria and ochronosis. Alkaptonuriaand ochronosis affect many body systems, as described below. http://oci.mcw.edu/article/921733488.html

Search: search tips Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Alkaptonuria and Ochronosis Alkaptonuria is a rare disease in which the body does not have enough of an enzyme called homogentisic acid oxidase (HGAO). It is a genetic disease, meaning that it is inherited from a family member. Because normal amounts of the HGAO enzyme are missing, homogentisic acid (HGA) is not used and builds up in the body. Some is eliminated in the urine, and the rest is deposited in body tissues where it is toxic. The result is ochronosis, a blue-black discoloration of connective tissue including bone, cartilage, and skin caused by deposits of ochre-colored pigment. Patients with alkaptonuria are usually not aware of the disease until about age 40 when symptoms are present. Dark staining of the diapers sometimes can indicate the disease in infants, but usually no symptoms are present until much later in life. Alkaptonuria and ochronosis affect many body systems, as described below.

26. Ochronosis Figure 3 http://www.mgh.harvard.edu/depts/dermpath/Unkowns/ochronosis_figure3.htm

27. The Molecular Basis Of Alkaptonuria. Alkaptonuria ochronosis. http://www.mgh.harvard.edu/depts/dermpath/Unkowns/ochronosis.htm

Alkaptonuria - Ochronosis

28. Roche Lexikon Medizin (4. Aufl.) - Ochronosis Translate this page ochronosis. engl. ochronosis. (VIRCHOW, BOSTRÖM) blauschwärzl. Verfärbungvon Bindegewebe u. Knorpel durch Einlagerung eines »ockerfarbenen http://www.gesundheit.de/roche/ro27500/r27500.html

29. Ochronosis - General Practice Notebook ochronosis. The term ochronosis is used to describe the darkening of tissuesas a consequence of 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. Click here for more information...

30. MANIFESTATIONS OF OCULAR OCHRONOSIS - A CASE REPORT MANIFESTATIONS OF OCULAR ochronosis A CASE REPORT. Y. Krause, W.Lieb. ochronosis is a complication of a rare hereditary metabolic http://www.dog.org/engl/abstract97/P536.html

MANIFESTATIONS OF OCULAR OCHRONOSIS - A CASE REPORT Y. Krause, W. Lieb Ochronosis is a complication of a rare hereditary metabolic disease alkaptonuria, in which the enzyme homogentisic acid oxidase is missing. This metabolic defect causes an accumulation of an intermediate product in the metabolism of phenylalanin and tyrosine in bradythrophic tissues. The cardinal features are presence of homogentisic acid in the urine and darkening of the urine, ochronosis and degenerative arthritis. The diagnostic tests are based on the urinanalysis and the detection of homogentisic acid in blood and other tissue. The X-ray changes of the lumbosacral region are pathognomonic for the ochronotic arthritis. Since 1996 it is possible to search for thegcne mutation in alkaptonuria patients. Case report: Wc present a 7 1-year old female, who was referred to our hospital witb suspicion of choroidal melanoma. We initially diagnosed an alkaptonuria by the appearance of the typical sypmptom trias: the pigmentation of the conjunctiva, sclera and cornea, and also the greyisb blue pigmentation of the car cartilage. The diagnostic tests showed the presence of homogentisic acid in blood and urine. The patient gave a history of a severe arthritis with some surgical interventions. Conclusion: The ocular manifestation was not the cardinal symptom, but lead to the initial diagnosis of ochronosis and alkaptonuria in a 71 year old patient.

31. Arthritis, Ochronosis Arthritis, ochronosis. The radiographic findings in arthritis associated withochronosis are indistinguishable from classic degenerative arthritis. http://imc.gsm.com/integrated/msk/mspath/enneking/sect08/ochronos.html

About Table of Contents Arthritis Help Arthritis, Ochronosis Introduction Pathophysiology Clinical Manifestations Radiographic Findings ... References Return directly to Degenerative Arthritis Introduction Ochronosis is a metabolic disease in which all of the collagen-containing tissues are affected by the deposition of the black pigment homogentisic acid. The predilection for deposition of this pigment in articular cartilage leads to a high incidence of disabling degenerative arthritis in these patients. Pathophysiology Ochronosis is a hereditary disorder of tyrosine degradation due to the lack of the enzyme homogentisic acid oxidase which results in excessive accumulation of homogentisic acid. When excreted, it causes darkening of the urine on exposure to air, a condition known as alkaptonuria . The excess homogentisic acid results in accumulation of its dark oxidative product in all collagen-containing structures with a predilection for articular cartilage. The homogentisic acid is thought to disrupt collagen cross-linkage with weakening of the matrix. The cartilage is, therefore, unable to bear physiologic loads, and its subsequent breakdown initiates the cycle of degenerative arthritis. Clinical Manifestations Darkened urine is usually the first sign of the disease and may be the only indication of its presence for many years. With time, pigmentation of the sclerae, earlobes, dorsum of the knuckles and other aspects of the skin appear. The onset of degenerative arthritis occurs in early adult life well before the onset of classic degenerative arthritis due to aging.

32. DISEASE: Ochronosis DISEASE ochronosis. Categories (11 of 1). Health Conditions_and_DiseasesGenetic_Disorders Alkaptonuria. previous more categories , Web Pages. http://disease.bigtome.com/big/page/Ochronosis

DISEASE: Ochronosis Categories (1-1 of 1) Health: Conditions_and_Diseases: Genetic_Disorders: Alkaptonuria Web Pages Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. - http://healthlink.mcw.edu/article/921733488.html Health: Conditions and Diseases: Genetic Disorders: Alkaptonuria Put this Directory on Your Site! Submit a Site Become an Editor

33. Dermatology.cdlib.org/rxderm-archives/ochronosis ochronosis A 46 yo African woman(visiting from the Congo) has been using a bleaching cream (available in http://dermatology.cdlib.org/rxderm-archives/ochronosis

34. 1Up Health > Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, O Comprehesive information on Alkaptonuria (Alcaptonuria, Homogentisic acidoxidase deficiency, ochronosis). Covers info such as , alternative http://www.1uphealth.com/health/alkaptonuria.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Alkaptonuria Information Guide Alternative 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. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Arthritis More Urinalysis More More Topics Autosomal recessive Enzyme Metabolism Sclera ... More Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

35. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Alkaptonuria and ochronosis A detailed look at these disorders, how it affectsthe many body parts, diagnosis, diet and treatment are discussed. http://www.1uphealth.com/links/genetic-disorders-alkaptonuria.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Alkaptonuria Categories Support Groups See Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders Sites Alkaptonuria A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing. Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. eMedicine Online Text: Alkaptonuria An in depth look at this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed. MedicineNet.com : Alkaptonuria An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment. Help build the largest human-edited directory on the web.

36. OCHRONOSIS (Search FastHealth.com) OCHRONOSIS Dictionary FastHealth Email This! ochro·no·sis n, pl no*ses a conditionoften associated with alkaptonuria and marked by pigment http://www.fasthealth.com/dictionary/o/ochronosis.php

Dictionary FastHealth Email This! n pl -no*ses ochro*not*ic adj FastNurse Drug Search Hospital Search Find a Physician ... Dead Links

37. Alkaptonuria Alternative Names Alcaptonuria; Homogentisic acid oxidase deficiency;ochronosis. Causes, incidence, and risk factors Alkaptonuria http://www.pennhealth.com/ency/article/001200.htm

Disease Injury Nutrition Poison ... Prevention 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. 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.

38. Medicine Online Medical Reference, Cosmetic Plastic Surgery, Bid For Rx, Medicat Alkaptonuria (ochronosis) Alkaptonuria (ochronosis) Alkaptonuria is a rareinherited (genetic) disorder. The onchronosis). What is ochronosis? http://www.medicineonline.com/ReferanceDetails.asp?ArticleID=6815

39. Medicine Online Medical Reference, Cosmetic Plastic Surgery, Bid For Rx, Medicat Detail Info Alkaptonuria (ochronosis) Alkaptonuria (ochronosis)Alkaptonuria is a rare inherited (genetic) disorder. The gene http://www.medicineonline.com/Default.asp?RefID=2&Main=1

40. Ochronosis ochronosis. A Medical Encyclopedia Article provided by Maryland General Hospital.A resource with information on over 4000 medical topics including ochronosis. http://www.bloodandmarrowtransplant.com/medical-terms/03114.htm

Ochronosis A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Ochronosis Previous Next

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