1. Alkaptonuria And Ochronosis ochronosis is a blueblack discoloration of bone, cartilage, and skin caused by deposits of ochre-colored pigment. Subscribe now . Alkaptonuria and ochronosis. http://healthlink.mcw.edu/article/921733488.html

Search Articles: search tips Please Take the HealthLink Survey 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.

2. EMedicine - Ochronosis : Article By Craig G Burkhart, MSPH, MD ochronosis ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a http://www.emedicine.com/derm/topic476.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Metabolic Diseases Ochronosis Last Updated: September 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: alkaptonuria, bluish black discoloration of tissue, exogenous ochronosis, exposure to hydroquinone, homogentisic acid oxidase, homogentisic acid, HGA AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Craig G Burkhart, MSPH, MD , Clinical Professor, Department of Internal Medicine, Medical College of Ohio at Toledo Coauthor(s): Craig Nathaniel Burkhart, BS , Consulting Staff, Medical College of Ohio at Toledo Craig G Burkhart, MSPH, MD, is a member of the following medical societies: American Academy of Dermatology Ohio State Medical Association , and Phi Beta Kappa Editor(s): C Lisa Kauffman, MD

3. Ochronosis a CHORUS notecard document about ochronosis Disclaimer. Feedback. Search. ochronosis. aka alkaptonuria alkaptonuria brown/black urine. ochronosis brown/black pigmentation of skin, mucous http://chorus.rad.mcw.edu/doc/00016.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search ochronosis aka: alkaptonuria autosomal recessive excessive homogentisic acid no homogentisic acid oxidase part of phenylalanine / tyrosine pathway alkaptonuria: brown/black urine ochronosis: brown/black pigmentation of skin, mucous membranes pigment deposition in articular cartilage of joints ==> chronic arthritis (usually evident in 4th decade) narrowed, calcified intervertebral disks renal calculi nephrocalcinosis Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Medical College of Wisconsin

4. Diagnose-Me: Conditions: Ochronosis / Alkaptonuria ochronosis / Alkaptonuria, Signs, symptoms indicators of ochronosis / Alkaptonuria Symptoms Nails, Blue and brown fingernails. http://www.diagnose-me.com/cond/C451501.html

Home FAQ Start The Analyst Last updated: Mar 01, 2004 Ochronosis / Alkaptonuria Signs, symptoms and indicators Treatment recommendations Ochronosis is the muscoskeletal manifestation of alkaptonuria - a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine . It affects especially the large joints (hip, knees and vertebral column) by a progressive degenerative arthrosis The outward signs are the ocular (eye) and the skin pigmentations, the genito-urinary calculi (stones) and cardiovascular ochronosis (especially the aortic valve). The symptoms mostly begin within the third or fourth decade. It was Scribonius who described the first known case of ochronosis in 1584. He mentioned a schoolboy who passed urine black as ink. In 1902, Albrecht and Zdareck discovered the link with alkaptonuria. The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding. [ Laoussadi S., Menkes C.-J. Arthroses D’Etiologie rare. Rev. Rhum. Ed. Fr., nr 9 bis, Vol. 61, Nov. 1994

5. Ochronosis Other characters. ochronosis, the bluishblack pigmentation occurring in connective tissue of patients with alkaptonuria http://www.amersham-health.com/medcyclopaedia/Volume III 1/OCHRONOSIS.asp

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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 DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

6. Ochronosis - Glossary Entry - Genetics Home Reference ochronosis Glossary Entry. Synonym(s). alkaptonuric ochronosis. Definition(s). A disease in which the metabolic products http://ghr.nlm.nih.gov/ghr/glossary/ochronosis

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Glossary Glossary Home Search Genetics Home Reference Help Me Understand Genetics Ochronosis - Glossary Entry Synonym(s) alkaptonuric ochronosis Definition(s) A disease in which the metabolic products of phenylalanine and tyrosine accumulate, resulting in the deposition of HOMOGENTISIC ACID (a brown-black pigment) in the connective tissue. It occurs in ALKAPTONURIA, but has also been observed in connection with exposure to certain chemicals (e.g., phenol, trinitrophenol, benzene derivatives). Definition from: Unified Medical Language System (MeSH) at the National Library of Medicine A condition often associated with alkaptonuria and marked by pigment deposits in cartilages, ligaments, and tendons. Definition from: MedlinePlus at the National Library of Medicine Genetics Home Reference obtains definitions from several sources Published: May 28, 2004

7. Alkaptonuria - Genetics Home Reference Homogentisic acid oxidase deficiency; Alcaptonuria; Alkaptonuric ochronosis; Homogentisic acidura; ochronosis; Ochronotic arthritis; AKU. http://ghr.nlm.nih.gov/condition=alkaptonuria

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Alkaptonuria Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Alkaptonuria What is alkaptonuria? Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Dark pigment builds up in connective tissues such as cartilage and skin. The condition is also characterized by arthritis in adulthood. How common is alkaptonuria? The condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. What genes are related to alkaptonuria? Mutations in the HGD gene cause alkaptonuria. The HGD gene makes an enzyme called homogentisate oxidase, which helps break down the amino acids phenylalanine and tyrosine (important building blocks of proteins) into smaller molecules. Mutations in the HGD gene prevent the enzyme from playing its role in this process. As a result, a substance called homogentisic acid builds up in the body. Excess homogentisic acid is deposited in connective tissues, which causes cartilage and skin to darken and leads to arthritis. Homogentisic acid is also in present in urine, which makes the urine turn dark when exposed to air.

8. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Resources Help What's New About. Browse By Condition By Disease Heading Nutritional and Metabolic Diseases ochronosis. Include trials that are no longer recruiting patients. 1 study was http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

9. University Of Miami School Of Medicine - Glossary - Alkaptonuria (Ochronosis) Diseases and Conditions. Alkaptonuria (ochronosis). and have alkaptonuria (ochronosis). What is ochronosis? ochronosis is the darkening http://www.med.miami.edu/patients/glossary/art.asp?articlekey=7804

10. Ochronosis Medical Encyclopdia article about ochronosis ochronosis. A Medical Encyclopedia Article provided by the University of Maryland Medical System. A resource with information on over 4000 medical topics including ochronosis http://www.umm.edu/medical-terms/03114.htm

Ochronosis A Medical Encyclopedia Article provided by the University of Maryland Medical System A resource with information on over 4000 medical topics including: Ochronosis Previous Next

11. Alkaptonuria - Arthritis: Health And Medical Information About Arthritis And Oth and one normal gene (and seem entirely normal) and a onequarter (25%) chance to receive both of their alkaptonuric genes and have alkaptonuria (ochronosis). http://www.medicinenet.com/Alkaptonuria/article.htm

MedicineNet Home Arthritis Home > Alkaptonuria Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Alkaptonuria (Ochronosis) What is alkaptonuria? How is alkaptonuria inherited? What is ochronosis? How does alkaptonuria affect the joints? ... Alkaptonuria At A Glance What is alkaptonuria? Alkaptonuria is a rare disease that is inherited. The disease results from a deficiency of the enzyme homogentisic acid oxidase. This enzyme deficiency leads to a build up of homogentisic acid in tissues of the body. Alkaptonuria is known to be especially frequent in Slovakia and in the Dominican Republic. How is alkaptonuria inherited? Alkaptonuia is a classic recessive condition. The gene for it is on a nonsex (autosomal) chromosome. Parents of a person with alkaptonuria each have one alkaptonuric gene and a normal gene paired with it. They have no symptoms of alkaptonuria at all. Each of their children has a one-quarter (25%) chance to receive both of their normal genes, a one-half (50%) chance to receive one alkaptonuric and one normal gene (and seem entirely normal) and a one-quarter (25%) chance to receive both of their alkaptonuric genes and have alkaptonuria (ochronosis). What is ochronosis?

12. Ochronosis ochronosis. aka alkaptonuria. autosomal recessive. excessive homogentisic acid alkaptonuria brown/black urine. ochronosis brown/black pigmentation of skin, mucous membranes http://chorus.rad.mcw.edu/to-go/00016.html

ochronosis aka: alkaptonuria autosomal recessive excessive homogentisic acid no homogentisic acid oxidase part of phenylalanine / tyrosine pathway alkaptonuria: brown/black urine ochronosis: brown/black pigmentation of skin, mucous membranes pigment deposition in articular cartilage of joints ==> chronic arthritis (usually evident in 4th decade) narrowed, calcified intervertebral disks renal calculi nephrocalcinosis Home Musculoskeletal system

13. Ochronosis Other characters, ochronosis,. Print this article, the bluishblack pigmentation occurring in connective tissue of patients with alkaptonuria. http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/OCHRONOSIS.ASP

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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 DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

14. EMedicine - Ochronosis : Article Excerpt By: Craig G Burkhart, MSPH, MD ochronosis ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a metabolic disorder. Additionally, black discoloration of tissue, exogenous ochronosis, exposure to hydroquinone, homogentisic acid http://www.emedicine.com/derm/byname/ochronosis.htm

(advertisement) Excerpt from Ochronosis Synonyms, Key Words, and Related Terms: alkaptonuria, bluish black discoloration of tissue, exogenous ochronosis, exposure to hydroquinone, homogentisic acid oxidase, homogentisic acid, HGA Please click here to view the full topic text: Ochronosis Background: Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a metabolic disorder. Additionally, ochronosis can occasionally occur from exposure to noxious substances, such as phenol, trinitrophenol, benzene, and hydroquinone. Pathophysiology: Ochronosis was defined by Virchow who histologically described the connective tissue in alkaptonuria, given the cartilage's ochre, or yellow, hue under the microscope. Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase, the only enzyme capable of catabolizing homogentisic acid (HGA). Alkaptonuria features a defect in the biochemical pathway by which phenylalanine and tyrosine are normally degraded into fumaric and acetoacetic acid. The genetic defect is mapped to band 3q1 to q23, and 18 genetic missense mutations are known to cause homogentisic acid oxidase aberrations. This deficiency results in accumulation and deposition of HGA in cartilage, causing the characteristic diffuse bluish black pigmentation. Exogenous ochronosis, in which bluish black pigmentation of cartilage is noted iatrogenically by exogenous agents, has been seen after exposure to noxious substances, including phenol, trinitrophenol, benzene, and hydroquinone.

15. Ochronosis N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, ochronosis,. Print this article, see alkaptonuria. HC. The Encyclopaedia of Medical Imaging Volume VII. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OCHRONOSIS.ASP

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Ochronosis, see alkaptonuria HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

16. AllRefer Health - Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficien Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, ochronosis) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, http://www.1uphealth.com/health/alkaptonuria_info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Alkaptonuria Alkaptonuria Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page 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.

17. OCHRONOSIS - Meaning And Definition Of The Word Dictionary, Medical Dictionary. Search Dictionary ochronosis Dictionary Entry and Meaning. WordNet Dictionary. Definition n an http://www.hyperdictionary.com/dictionary/ochronosis

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: OCHRONOSIS: Dictionary Entry and Meaning WordNet Dictionary Definition: [n] an accumulation of dark ... poisoning See Also: symptom HOME ABOUT HYPERDICTIONARY

18. LearningRadiology-Ochronosis ochronosis Alkaptonuria. Rare hereditary disorder More common in males 21. Insufficiency of homogentisic acid oxidase. Results in 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

19. LearningRadiology - Ochronosis Return to Case. ochronosis Alkaptonuria. Rare hereditary disorder More common in 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

20. CT And MRI Findings Of Ochronosis - Eurorad - Clinical Case 1377 - Resident teaching files,radiology,CT and MRI findings of ochronosis,The patient presented with signs of low back pain and restriction in movement.,ochronosis,EAR,ECR http://www.eurorad.org/case.cfm?uid=1377

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