1. Alkaptonuria And Ochronosis Alkaptonuria is a rare disease in which the body does not have enough of a specificenzyme. ochronosis is a blueblack discoloration of bone, cartilage, 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. Alkaptonuria And Ochronosis Alkaptonuria is a rare disease in which the body does not have enough of a specific enzyme. ochronosis is a blueblack discoloration of bone http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Ochronosis - Glossary Entry - Genetics Home Reference ochronosis. Synonym(s). alkaptonuric ochronosis. Definition(s). A disease inwhich the metabolic products of phenylalanine and tyrosine accumulate, http://ghr.nlm.nih.gov/ghr/glossary/ochronosis

Home What's New Browse Handbook ... Search Glossary Glossary Glossary Sources Glossary A ... Y-Z Ochronosis 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 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

4. Ochronosis Definition - Medical Dictionary Definitions Of Popular Definition of ochronosis ochronosis 1. Deposition of dark pigment in connective tissues, usually due to alkaptonuria or exposure to chemicals such http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. EMedicine - Ochronosis : Article By Craig G Burkhart, MD, MPH ochronosis ochronosis is the bluish black discoloration of certain tissues,such as the ear cartilage and the ocular tissue, seen with alkaptonuria, 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: May 4, 2005 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, MD, MPH , Clinical Professor, Department of Medicine, Section of Dermatology, Medical College of Ohio at Toledo, Clinical Assistant Professor, Department of Dermatology, Ohio University School of Medicine Coauthor(s): Craig Nathaniel Burkhart, MD, MS , Staff Physician, Dermatology, University of NC at Chapel Hill Craig G Burkhart, MD, MPH, 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

6. EMedicine - Ochronosis Article By Craig G Burkhart, MD, MSPH ochronosis ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. EMedicine - Skin Lightening/Depigmenting Agents : Article By Michael P Tabibian, An uncommon, yet important, adverse effect of HQ is exogenous ochronosis. Exogenous ochronosis generally has been observed in black patients and after http://www.emedicine.com/derm/topic528.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 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 Christen M Mowad, MD , Assistant Professor, Department of Dermatology, Geisinger Medical Center, Pennsylvania State College of Medicine; Catherine Quirk, MD

8. Ochronosis a CHORUS notecard document about ochronosis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Diagnose-Me: Condition: Ochronosis / Alkaptonuria The Analyst (TM) Comprehensive Online Evaluations For Those Seeking Answers ToTheir Health Problems. Travel-Free Results, Now! http://www.diagnose-me.com/cond/C451501.html

Home FAQ Start The Analyst 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 There is no cure for ochronotic arthropathy. The

10. Alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary Alkaptonuria, Alcaptonuria, Alkaptonuric ochronosis, Hereditary Alkaptonuria, Homogentisic Acid Oxidase Deficiency, Homogentisic Acidura, ochronosis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Alkaptonuria - Arthritis And Arthritic Conditions, Medications, And Treatment On What are symptoms of alkaptonuria (ochronosis)? ochronosis is the darkeningof the tissues of the body that is caused by pigment composed of the excess http://www.medicinenet.com/alkaptonuria/article.htm

document.writeln(''); MedicineNet Home Arthritis Home Page > Alkaptonuria Search Tips Printer-Friendly Format FREE Newsletters Email to a Friend ... Next 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. Diagnose-Me Condition Ochronosis / Alkaptonuria ochronosis is the muscoskeletal manifestation of alkaptonuria a rather rare (one in 200 000 births) inherited disorder of protein metabolism http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Alkaptonuria - Arthritis And Arthritic Conditions, Medications, And Treatment On Other causes of ochronosis that mimic alkaptonuria include the prolongedadministration of Heart valves can also become diseased due to ochronosis. http://www.medicinenet.com/alkaptonuria/page2.htm

document.writeln(''); MedicineNet Home Arthritis Home Page > Alkaptonuria Search Tips Printer-Friendly Format FREE Newsletters Email to a Friend Previous Alkaptonuria Center Next Alkaptonuria (cont.) In this Article What is alkaptonuria? How is alkaptonuria inherited? What is ochronosis? How does alkaptonuria affect the joints? What are symptoms of alkaptonuria (ochronosis)? How is alkaptonuria (ochronosis) diagnosed? How is alkaptonuria (ochronosis) treated? Where is the alkaptonuria gene and why is the disease unique in genetics (the study of heredity)? Alkaptonuria At A Glance Alkaptonuria Center How does alkaptonuria affect the joints? Alkaptonuria leads to premature progressive degeneration of the cartilage of the joints due to the accumulation of homogentisic acid in the cartilage. This results in osteoarthritis of joints throughout the body at an unusually early age. Typical joints affected include the spine, knees, hips, and shoulders. Joint symptoms include stiffness, pain, swelling, and limited motion. Other causes of ochronosis that mimic alkaptonuria include the prolonged administration of quinacrine (atabrine) and the use of some bleaching creams used by black women to lighten their complexion (the offending creams contain hydroquinone).

14. Ocular Ochronosis In Alkaptonuria Patients Carrying Mutations In Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1 2dioxygenase gene http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Ochronosis a CHORUS notecard document about ochronosis. 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 About CHORUS Search Feedback 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 Related CHORUS documents: chondrocalcinosis hemosiderosis / hemochromatosis Wilson disease renal calculi ... McCune-Albright syndrome Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

16. Ocular Ochronosis In Alkaptonuria Patients Carrying Mutations In Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1 2dioxygenase gene http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Ochronosis alkaptonuria brown/black urine; ochronosis brown/black pigmentation of skin,mucous membranes. pigment deposition in articular cartilage of joints 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

18. Dr. Koop - Alkaptonuria Alcaptonuria; Homogentisic acid oxidase deficiency; ochronosis with an ochre color (earthy red or yellow), which led to the name ochronosis. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. OCHRONOSIS A 46 She seems to me a classic presentation of exogenous ochronosis. Any therapeuticsuggestions? I told her to D/C the bleaching, and gave her some Aclovate to http://dermatology.cdlib.org/rxderm-archives/ochronosis

20. Arch Ophthalmol Ocular Manifestations Of Alkaptonuric Ocular Manifestations of Alkaptonuric ochronosis Jordan Cheskes, MD the hips (Figure 3). She suffered from alkaptonuric ochronosis, as did http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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