21. 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

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.

22. AllRefer Health - Alkaptonuria Complications (Alcaptonuria, Homogentisic Acid Ox alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis) information center covers Complications. alkaptonuria. http://health.allrefer.com/health/alkaptonuria-complications.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 : Complications of Alkaptonuria Alkaptonuria Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider Go To Main Page Alternate Names : Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis Alkaptonuria Complications Accumulation of homogentisic acid products in the cartilage causes arthritis in about 50% of older adults with alkaptonuria. Homogentisic acid products can accumulate on the heart valves, especially the mitral valve, sometimes leading to the need for valve replacement. Coronary artery disease may develop earlier in people with alkaptonuria.

23. Alkaptonuria alkaptonuria Important It is possible that the main title of the report alkaptonuria is not the name you expected. Please check http://my.webmd.com/hw/health_guide_atoz/nord23.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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)

24. Disease Directory : Genetic Disorders : Alkaptonuria alkaptonuria A brief discussion about this disease and its statistics world wide. Followed standing. alkaptonuria - alkaptonuria. http://www.diseasedirectory.net/Genetic_Disorders/Alkaptonuria/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Alkaptonuria 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 - Alkaptonuria. Disease type: Genetic Disorder Chromosome : 3 Pathology. Aetiology. The gene for Alkaptonuria is a recessive mutation. Alkaptonuria - Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition ALKAPTONURIA - Features Listed For ALKAPTONURIA. McKusick: 203500. Abnormal urinary colour; Aminoaciduria; Arterial stenosis; Blue sclera; Calcification of ear cartilage; Alkaptonuria - Alkaptonuria. Alkaptonuria (AKU; McKusick nº 203500) is a rare autosomal recessive disorder of both historical and medical interest. Alkaptonuria Alkaptonuria - More Alkaptonuria Categories: » Submit Your Site to the Alkaptonuria category. Submit Your Site to the Alkaptonuria category. Featured Partners. ALKAPTONURIA - ALKAPTONURIA - The excretion of homogentisic acid (alkapton) in the urine due to the congenital absence of the enzyme homogentisate 1,2-dioxygenase.

25. Disease Directory : Alkaptonuria A...... Zellweger Syndrome. Diseases Genetic Disorders alkaptonuria alkaptonuria. Directory Listing. Title alkaptonuria http://www.diseasedirectory.net/detailed/9986.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Alkaptonuria : Alkaptonuria Directory Listing Title: Alkaptonuria Description: 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. Date Added: 2/4/2004 1:24:47 PM URL: http://www.kfshrc.edu.sa/annals/185/98-055.html

26. Alkaptonuria Definition Of Alkaptonuria. What Is Alkaptonuria? Meaning Of Alkapt Definition of alkaptonuria in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of alkaptonuria. http://www.thefreedictionary.com/alkaptonuria

Dictionaries: General Computing Medical Legal Encyclopedia Alkaptonuria Word: Word Starts with Ends with Definition Noun alkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine alcaptonuria metabolic disorder - a disorder or defect of metabolism Legend: Synonyms Related Words Antonyms Some words with "Alkaptonuria" in the definition: alcaptonuria metabolic disorder ochronosis symptom Previous General Dictionary Browser Next alkalizer alkaloid alkaloidal ... Alkoranist Full Dictionary Browser alkalise alkaliser Alkalizate Alkalization ... Alkaloid (enc.) alkaloidal Alkalosis Alkalosis (enc.) alkalotic alkaluria Alkane Alkane (enc.) alkane series Alkanet Alkanet (enc.) Alkanone (enc.) alkapton Alkargen Alkarsin Alkatrazz (enc.) Alkazar Alkekengi Alkemade (enc.) Alken (enc.) Alkene Alkene (enc.) Alkeran Alkermes Alkhawarithmy (enc.) Alki (enc.) Alki, Seattle, Washington (enc.) Alkimos (enc.) Álkimos (enc.) Alkinoos (enc.) Alkínoös (enc.) Alkippe (enc.) Alkippê (enc.) For surfers: Instant word lookup for your browser Help For webmasters: Linking to the Dictionary Dictionary lookup box Script word lookup Partner with us ... Farlex, Inc.

27. 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

28. ALKAPTONURIA Features Listed For alkaptonuria. McKusick 203500. Abnormal urinary colour; Aminoaciduria; Arterial stenosis; Blue sclera; Calcification of ear cartilage; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?53

29. Aku - Alkaptonuria Features Listed For aku alkaptonuria. Abnormal urinary colour; Aminoaciduria. Chromosome 16;A-B5. MOUSE GENOME DATABASE (MGD). http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-look-up?59

30. Alkaptonuria alkaptonuria,. Print this article, a rare hereditary the disease. Elderly persons with alkaptonuria may be completely disabled. Radiography http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/ALKAPTONURIA.A

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 Alkaptonuria, a rare hereditary metabolic disorder resulting from an inability to metabolize homogentisic acid due to absence of the enzyme homogentisic acid oxidase. Homogentisic acid in the urine is oxidized to a melanin-like product, which makes urine gradually turn dark. Ochronosis refers to the bluish-black pigmentation of connective tissue that may ensue, and ochronotic arthropathy results from the pigmented deposits in the joints of the appendicular and axial skeleton. Ochronotic arthropathy The most characteristic manifestations of ochronotic arthropathy are widespread discal calcification, with loss of intervertebral disc height, and a distinctive arthropathy of axial and extra-axial joints (Table 1). Initial clinical manifestations may be seen in the hips, knees, and shoulders, with pain and limitation of motion. Joint effusions result from fragmentation of friable cartilage, with subsequent irritation of the synovial membrane. Stiffness and low back pain, obliteration of the normal lumbar curve, thoracic kyphosis, and restriction of motion are spinal manifestations of the disease. Elderly persons with alkaptonuria may be completely disabled. Radiography reveals discal calcification, which is the most characteristic abnormality of the spine. The calcification consists of apatite crystals and occurs predominantly in the inner fibers of the anulus fibrosus. Narrowing of the intervertebral disc space and vacuum phenomenon are also characteristic manifestations of alkaptonuria (

31. Alkaptonuria Other characters, alkaptonuria,. Print this article, For a general description, see alkaptonuria. HC. The Encyclopaedia of Medical Imaging Volume VII. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ALKAPTONURIA.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 Alkaptonuria, inborn error of metabolism in which there is absence of homogentisic acid oxidase and therefore inability to metabolize homogentisic acid. Homogentisic acid in the urine oxidizes and the urine turns black. Bluish black pigmentation of connective tissue (ochronosis) and arthropathy occur with pigmented deposits in joints with calcification of hydroxyapatite crystals. For a general description, see alkaptonuria HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

32. Alkaptonuria alkaptonuria. alkaptonuria (AKU; McKusick nº 203500) is a rare autosomal recessive disorder of both historical and medical interest. http://www.alkaptonuria.cib.csic.es/alkaptonuria.htm

AKU database Alkaptonuria Alkaptonuria (AKU; McKusick nº ) is a rare autosomal recessive disorder of both historical and medical interest. It represents a classical example of a discrete biochemical lesion resulting from a single gene deficiency that gives rise to a degenerative disease (O'Brien et al., 1963). AKU patients are deficient for homogentisate 1,2 dioxygenase activity (HGO, EC 1.13.11.5 (La Du et al., 1958). This enzyme deficiency results in the accumulation of homogentisic acid (HGA), an intermediary metabolite in phenylalanine and tyrosine catabolism. In AKU patients, HGA is excreted in large amounts into the urine, which darkens on standing. This staining of the urine, which can be detected from early childhood, is the first and best known manisfestation of the disease and the one that brought it to clinical attention. Over the years, benzoquinone acetic acid (an oxidation product of HGA) is deposited either directly or as a polymer into connective tissues, causing their pigmentation (ochronosis) and eventually leading to serious arthropathy (Reviewed in La Du, 1995). AKU was the first disease to be interpreted as a single gene trait. In 1902 Garrod reported the mode of inheritance in AKU (

33. NORD - National Organization For Rare Disorders, Inc. alkaptonuria. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1984, 1985, 1987, 1989, 1992, 1999, 2000, 2003, 2004 Synonyms of alkaptonuria http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alkaptonuria

34. NORD - National Organization For Rare Disorders, Inc. alkaptonuria. Researchers at the National Institutes of Child Health and Human Development at the NIH seek people with alkaptonuria to take part in a new study. http://www.rarediseases.org/nord/research/alka

Search NORD's Databases Read about diseases in NORD's Rare Disease Database. Find an organization in our Organizational Database. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Index of Organizations The A-to-Z of Organizations. Organizational Database Find a support group or other source of help. Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to the Rare Disease Database. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Alkaptonuria Researchers at the National Institutes of Child Health and Human Development at the NIH seek people with alkaptonuria to take part in a new study. Alkaptonuria is a rare genetic disease seen in all population groups, with a slight concentration in people of Czech or Dominican descent. The disease damages several systems in the body, and is characterized by painful joints (especially hip and spine), discoloration of the ear, dark spots in the whites of the eye, and dark color of bone. There is currently no treatment or cure. Study results should improve the understanding of the disease. There is no charge to patients who take part. For more information about this National Institutes of Health (NIH) study, go to

35. Alkaptonuria V W X Y Z . Back Home Next. alkaptonuria. alkaptonuria and Ochronosis Notebook. Alliance of Genetic Support Groups national http://www.ability.org.uk/Alkaptonuria.html

Our Aims Services Stats ... Z Alkaptonuria Alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups - national coalition of consumers, professionals and genetic support groups to voice the common concerns of children, adults and families living with, and at risk for, genetic conditions. Online Genetic Syndrome Support Groups - Sites are listed alphabetically by disease/conditon. Peter's Anomaly Support Group - An online support group for people dealing with Peter's Anomaly Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

36. Alkaptonuria alkaptonuria. broader Amino Acid Metabolism, Inborn Errors. other Phenylketonurias. alkaptonuria Society. This Web site has been http://omni.ac.uk/browse/mesh/C0002066L0002066.html

low graphics Alkaptonuria broader: Amino Acid Metabolism, Inborn Errors other: Phenylketonurias Alkaptonuria Society This Web site has been set up to provide information and support for those diagnosed with alkaptonuria. Brief information is provided about its causes, symptoms and complications. News and articles on clinical management of the condition are available, and there is also a discussion page and links to other related sites. Patient Education Amino Acid Metabolism, Inborn Errors Alkaptonuria Last modified: 27 May 2004

37. Genetic Disorders, Alkaptonuria More alkaptonuria Categories » Submit Your Site to the alkaptonuria category. Sponsored alkaptonuria Sites. Submit Your Site to the alkaptonuria category. http://www.iseekhealth.com/alkaptonuria-1547.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Alkaptonuria More Alkaptonuria Categories: Submit Your Site to the Alkaptonuria category Sponsored Alkaptonuria Sites Cystic Fibrosis Book Store At WellnessBooks.com Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Buy Genetics Books At Amazon.com and Save! Would you like to save on Genetics Books at Amazon and other stores? Compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! 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.

38. Alkaptonuria - Wikipedia, The Free Encyclopedia alkaptonuria. alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism. http://en.wikipedia.org/wiki/Alkaptonuria

Alkaptonuria From Wikipedia, the free encyclopedia. Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by defect in the enzyme homogentisic acid oxidase. The characteristic of alkaptonuria is that urine exposed to air turn dark (or black) after several hours. In adulthood persons suffering from alkaptonuria develop progressive arthritis (especially of the spine). This is caused by accumulation of a by-product, homogentisic acid, that is excreted in urine and damages bones and cartilages. Prevention is not possible and the treatment is aimed at ameliorating symptoms. Views Article Discussion Edit History Personal tools Log in Navigation Main Page Community portal Current events Recent changes ... Donations Search Toolbox What links here Related changes Special pages This page was last modified 13:42, 17 Nov 2002. All text is available under the terms of the GNU Free Documentation License (see for details). About Wikipedia

39. Alkaptonuria Information Diseases Database alkaptonuria,Homogentisate 1,2dioxygenase deficiency,Homogentisic acid oxidase deficiency,Ochronosis, Disease Database Information. http://www.diseasesdatabase.com/ddb409.htm

Diseases Database Index Sponsors Contact ... Previous Page Alkaptonuria Information Search 4 synonyms or equivalents were found. Alkaptonuria aka/or Homogentisate 1,2-dioxygenase deficiency aka/or Homogentisic acid oxidase deficiency aka/or Ochronosis may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Alkaptonuria: Definition(s) via UMLS Code translations and terms via UMLS Alkaptonuria: specific sites Send Alkaptonuria to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 08:28:17 Metadata Updated 2004-05-22

40. University Of Miami School Of Medicine - Glossary - Alkaptonuria (Ochronosis) Diseases and Conditions. alkaptonuria (Ochronosis). alkaptonuria is also known as homogentisic acid oxidase deficiency. alkaptonuria At A Glance. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=7804

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