1. Alkaptonuria And Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment Category Health Conditions and Diseases Alkaptonuria......ochronosis is a blueblack discoloration of bone, cartilage, and skin caused by depositsof 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. Ochronosis College's Collaborative Hypertext of Radiology offers a brief overview of the degenerative disease ochronosis. Access related medical articles. alkaptonuria brown/black urine. ochronosis brown/black pigmentation of skin, mucous membranes 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 14 March 2001 Medical College of Wisconsin

3. E-Doc: Ochronosis Medical Dictionary. ochronosis http://www.edoc.co.za/medilink/dict/2827.html

Medical Dictionary Ochronosis A characteristic brown-black pigmentation of connective tissue occuring in certain metabolic disorders; a result of deposition of homogentisic acid. Information last Updated: 1998-09-04 Contact Us E-Doc Send Questions and comments to the Pagemaster HTML by: E-Doc Reprohouse Last updated: 06 October 1999

4. SmartEngine - SmartGuide ( DISEASE : Ochronosis ) All about DISEASE ochronosis from SmartEngine.com Alkaptonuria and ochronosis. A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and http://disease.smartengine.com/shell/smartpage/Ochronosis

SmartGuide Web Auctions 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 About Us Contact Us Our Partners ... Help

5. Online Health Analysis: Conditions: Ochronosis / Alkaptonuria ochronosis is the muscoskeletal manifestation of alkaptonuria a rather rare (one in 200 000 births) inherited disorder http://www.digitalnaturopath.com/cond/C450993.html

Ochronosis / Alkaptonuria Last updated: Jan 28, 2003 THE ANALYST TM Home FAQ Start The Analyst Ochronosis / Alkaptonuria Signs, symptoms and indicators 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

6. Www.goodnet.com/~ee72478/enable/AKU.htm Similar pages ochronosis is the Muscoskeletal Manifestation of Alkaptonuria~ Version 2.0, last updated 21 February 2002 ~ ochronosis CLINICAL MANIFESTATIONS ochronosisis the muscoskeletal manifestation of alkaptonuria. http://www.goodnet.com/~ee72478/enable/AKU.htm

7. EMedicine - Ochronosis : Article By Craig G Burkhart, MSPH, MD Pathophysiology ochronosis was defined by Virchow who described histologically the connective tissue in alkaptonuria, http://www.emedicine.com/DERM/topic476.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Metabolic Diseases Ochronosis Last Updated: July 3, 2001 Rate this Article Email to a Colleague 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 , Chief of Dermatology, Associate Professor, Departments of Internal Medicine and Pathology, Georgetown University Medical Center; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Warren R Heymann, MD

8. Ochronosis Spinal Manifestations Figure 2 and 3 Spinal Manifestations of ochronosis, Figure 2 Dorsalkyphosis and flattened lumbar lordosis. Figure 3 Ochronotic http://www.orthoweb.be/cases/images/ochron23.htm

9. Alkaptonuria/Ochronosis Study Group Alkaptonuria/ochronosis Study Group Members and Contributors Aims Electronic collection of clinical data Sites of interest Scopi Cos'è l'alcaptonuria Raccolta elettronica di dati clinici Siti di interesse Last Updated, January 21 2002 http://www.dfc.unifi.it/aku

Alkaptonuria/Ochronosis Study Group Members and Contributors Aims Electronic collection of clinical data Sites of interest ... Siti di interesse Last Updated, January 21 2002

10. Alkaptonuria/Ochronosis Study Group Translate this page Alkaptonuria/ochronosis Study Group. Members and Contributors, Aims Electroniccollection of clinical data. Sites of interest. Scopi Cos'è l'alcaptonuria. http://www.dfc.unifi.it/aku/default.htm

Alkaptonuria/Ochronosis Study Group Members and Contributors Aims Electronic collection of clinical data Sites of interest ... Siti di interesse Last Updated, January 21 2002

11. Ochronosis Medical Encyclopdia article about ochronosis A resource with information on over 4000 medical topics including ochronosis http://www.marylandms.com/medical-terms/03114.htm

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

12. Clinical Form To Enter Cases In A Alkaptonuria/ochronosis Database Clinical form to enter cases in a alkaptonuria/ochronosis database. Please, fillas many fields as possible. All data will be strictly confidential (*). http://www.dfc.unifi.it/aku/formeng.htm

Clinical form to enter cases in a alkaptonuria/ochronosis database Please, fill as many fields as possible. All data will be strictly confidential (*). Name (first three letters) Surname (first three letters) Sex F M Birth Date (dd/mm/yy) Age at the present visit Mother's origin (specify the geographic area) Mother's ethnic group Father's origin (specify the geographic area) Father's ethnic group Consanguineity between mother and father YES NO If YES, specify Number brothers/sisters To exclude the presence of the metabolic defect in the other sibs, please, perform the fast test to detect the presence of homogentisic acid in the urine: add to a urine sample some drops of NaOH 1M. Test is positive if the color of the urine turns brown-black. If the fast test is positive in brothers/sisters, please fill another form. Assay of homogentisic acid in the urine (specify methods and units used) Are you willing to send biological material ? YES NO CLINICAL FINDINGS Pigment deposition auricles YES NO nails YES NO sclerae YES NO skin YES NO Other (specify): Valvular heart disease aortic YES NO mitralic YES NO Genito-urinary calculi bladder YES NO prostate YES NO Ipoacusia YES NO Ochronotic Arthropathy spine involvement YES NO If present, please fill in the following part:

13. Ochronosis ochronosis. aka alkaptonuria. autosomal recessive. excessive homogentisic acid 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

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

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Metabolic Diseases Ochronosis Last Updated: July 3, 2001 Rate this Article Email to a Colleague 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 , Chief of Dermatology, Associate Professor, Departments of Internal Medicine and Pathology, Georgetown University Medical Center; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Warren R Heymann, MD

15. EMedicine - Skin Lightening/Depigmenting Agents : Article By Michael P Tabibian, However, with reports of potential mutagenicity and epidemics of ochronosis in Africannations, there has been increasing impetus to find alternative herbal http://www.emedicine.com/derm/topic528.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Cosmetics Skin Lightening/Depigmenting Agents Last Updated: November 5, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 4 Author Information Introduction A Comprehensive Review Of The Literature Bibliography Author: Michael P Tabibian, MD , Consulting Staff, Department of Dermatology, Daniel Freedman Hospital, Marina Hospital Michael P Tabibian, MD, is a member of the following medical societies: Phi Beta Kappa Editor(s): Zoe Diana Draelos, MD, PA , Clinical Associate Professor, Department of Dermatology, Wake Forest University; Clinical Associate Professor, Department of Dermatology, Bowman Gray School of Medicine; David F Butler, MD , Interim Chair, Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Christen M Mowad, MD , Assistant Professor, Department of Dermatology, Geisinger Medical Center, Pennsylvania State College of Medicine; Catherine Quirk, MD

16. Ochronosis only. ochronosis,, Print this article, the bluishblack pigmentationoccurring in connective tissue of patients with alkaptonuria. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/OCHRONOSIS.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

17. Ochronosis Professionals only. ochronosis,, Print this article, see alkaptonuriaHC The Encyclopaedia of Medical Imaging Volume VII, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume VII/OCHRONOSIS.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Ochronosis, see alkaptonuria HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

18. Example Site - O Ochronosis ochronosis ochronosis This is a metabolic abnormality involving thesurface of the skin of the face as well as the whites of the http://www.totalskincare.com/library/totalskincare_o_ochronosis.html

Keywords: A B C D ... N O P Q R S ... Y-Z Ochronosis Ochronosis This is a metabolic abnormality involving the surface of the skin of the face as well as the whites of the eyes, where the tissues become discolored brown. This can occur due to the long term use of hydroquinone containing agents. It is very commonly seen in South African blacks. Oatmeal Obagi Ochronosis Octyl stearate Olive oil Onion extract Oregon grapefruit ... Orris absolute

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

20. Ochronosis (alkaptonuria) ochronosis (alkaptonuria). Cases. Deeb Z, Frayha RA Multiple vacuum discs,and early sign of ochronosis. Radiologic findings in two brothers. http://www.gentili.net/list4.asp?ID=117

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