81. ALKAPTONURIA: Contact A Family - For Families With Disabled Children: Informatio Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/a32.html

printer friendly ALKAPTONURIA home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Alkaptonuria is a rare metabolic disorder which was first described in 1902 by Sir Archibald Garrod. The three major features are arthritis, bluish-black pigmentation in connective tissue and urine that turns black when exposed to air. Individuals are affected differently by the range and severity of features. Alkaptonuria is found in all populations, however, it is especially frequent in individuals of Czech or Dominican descent. The condition affects males and females equally. Individuals are not usually aware of Alkaptonuria until their thirties and forties when symptoms become apparent. Children and young adults are usually asymptomatic. Alkaptonuria is caused by the deficiency of an enzyme known as homogentisic acid oxidase (HGAO). Normally, this enzyme performs a crucial step in a metabolic pathway by converting a chemical, homogentisic acid (HGA), into another form to meet the body's needs. As normal amounts of the HGAO enzyme are missing, HGA is not broken-down and accumulates in the body. Some is eliminated in the urine, and the rest is deposited in body tissues where it is harmful. The result is a blue-black discolouration of connective tissue including bone, cartilage and skin (otherwise known as ochronosis). The build-up of HGA leads to premature progressive degeneration in the joints. Chronic joint pain is one of the first symptoms of Alkaptonuria. Arthritis of the spine, knees and hips causes symptoms of stiffness, pain, swelling and limited motion. Males tend to have an earlier onset of arthritic symptoms with a greater degree of severity than females. Deposits of pigment may cause cartilage to become brittle and eventually to fragment.

82. OEDILF - Word Search Limericks on alkaptonuria. 11. The following limerick is in a Tentative state, which means the information contained within has not yet been verified. http://www.oedilf.com/db/Lim.php?Word=alkaptonuria

83. Alkaptonuria PDF Statement of Principles alkaptonuria http://www.websters-online-dictionary.org/definition/english/Al/Alkaptonuria.htm

Philip M. Parker, INSEAD. Alkaptonuria Definition: Alkaptonuria Alkaptonuria Noun . A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine. Source: WordNet 1.7.1 Specialty Definitions: Alkaptonuria Domain Definitions Health An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. ( references Source: compiled by the editor from various references ; see credits. Top Specialty Definition: 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.

84. Journal Of Bone And Joint Surgery: Spontaneous Tendon Ruptures In Alkaptonuria Full text of the article, Spontaneous tendon ruptures in alkaptonuria from Journal of Bone and Joint Surgery, a publication in the field of Health http://www.findarticles.com/p/articles/mi_qa3767/is_200308/ai_n9239086

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Journal of Bone and Joint Surgery Aug 2003 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Spontaneous tendon ruptures in alkaptonuria Journal of Bone and Joint Surgery Aug 2003 by Kumar, R V Manoj Rajasekaran, S Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Received 5 July 2002; Accepted after revision 16 December 2002 Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria. Alkaptonuria is a rare autosomal recessive metabolic disorder due to deficiency of the enzyme homogentisic acid oxidase which is involved in the metabolism of homogentisic acid, a metabolic product of the aromatic amino acids phenylalanine and tyrosine.1 The homogentisic acid which accumulates is polymerised to form a dark pigment which is deposited in connective tissues. The pigment is also selectively deposited in the hyaline cartilage of major peripheral joints and intervertebral discs leading to early degeneration and arthritis. Apart from pigmentation of the skin, sclera and the pinnae, systemic symptoms related to the genitourinary, cardiovascular and respiratory systems have also been described.2

85. Vindex - Zoekresultaten Voor alkaptonuria. A brief discussion about this disease and its statistics world wide. alkaptonuria and Ochronosis. A detailed look at these disorders, http://www.vindex.nl/dmoz.jspx?topic_id=Top/Health/Conditions_and_Diseases/Genet

86. Alkaptonuria (a Case Report). Sachdeva JR, Gupta MM, Jindal VK J Postgrad Med J Postgrad Med, Online version this peerreviewed periodical, a publication of the Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1986;volume=32;issue=3

87. OMIM - ALKAPTONURIA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203500

88. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ alkaptonuria and Ochronosis A detailed look at these disorders, alkaptonuria - A brief discussion about this disease and its statistics world wide. http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Alkaptonuria Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Health: Conditions and Diseases: Nutrition and Metabolism Disorders Search Google: Alkaptonuria News Books Links [ More news about Alkaptonuria Error: We did not find any matches for your request. [ More books about Alkaptonuria Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. 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. 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. 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.

89. Alkaptonuria - BlueRider.com alkaptonuria listen domain availability alkaptonuria. Your search results Your Search History - clear alkaptonuria http://alkaptonuria.bluerider.com/wordsearch/alkaptonuria

Enter a word or phrase Random Word Other Services Word Index Contact Us About ... Links alkaptonuria listen domain availability Dictionary and Thesaurus entries for: alkaptonuria Your search results... Web bluerider.com alkaptonuria [n] a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine Synonyms : alcaptonuria See Also: Your Search History clear alkaptonuria Enter a word or phrase Terms of Service Linux Man Pages Geographic Information ccTLD Information

90. Karger Publishers alkaptonuria; Phenylalanine; Tyrosine; Ochronosis; Homogentisic acid Ochronosis is not limited to alkaptonuria and can be caused by several exogenous http://content.karger.com/ProdukteDB/produkte.asp?Doi=18186

91. Homogentisic Acid Testing Location, ACH Biochemical Genetics Lab. Testing Frequency. Alternate Name(s), alkaptonuria. Reference Interval http://www.calgarylabservices.com/LabTests/AlphabeticalListing/H/Homogentisic-Ac

Home Contact Us Useful Links Site Map ... Patients List All Test Names Beginning With: A B C D ... Cytopathology Homogentisic Acid Source Urine  Mnemonic HOMOGEN  Specimen Requirements 10 mL random urine First morning specimen preferred. Specimen Handling All collection sites process and freeze IMMEDIATELY . Maintain frozen during transport to DSC.  Additional Information Testing Location ACH Biochemical Genetics Lab  Testing Frequency Alternate Name(s) Alkaptonuria  Reference Interval Back Page updated on Apr 26, 2004 at 9:49 AM. Please read our

92. Health Library - PDF THE INCIDENCE OF alkaptonuria A STUDY IN CHEMICAL INDIVIDUALITY http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

93. Dura Mater Involvement In Ochronosis (Alkaptonuria) Clinical manifestations of alkaptonuria have been well described and are most We describe a 66year-old woman with a history of alkaptonuria who had http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/0003-998

94. Resource Library Find Information On Alkaptonuria At MerckSource Find information on alkaptonuria at MerckSource. Learn more about alkaptonuria, alkaptonuria is a rare inherited disorder of metabolism characterized by http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

95. Surgery Door - Support Groups The alkaptonuria Society. 12 High Beeches Childwall Liverpool The alkaptonuria Society aim is to create an information and support network for those http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26740989

96. Definition Of Alkaptonuria - WordReference.com Dictionary Ocular ochronosis in alkaptonuria patients carrying mutations in Despite striking features of ochronosis, the diagnosis of alkaptonuria had never been To analyse the HGO gene in the two German alkaptonuria patients, http://www.wordreference.com/definition/alkaptonuria

Word Reference .com alkaptonuria A noun alkaptonuria alcaptonuria a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine Category Tree: state condition status disorder ... upset alkaptonuria alcaptonuria Need more information? Ask a question in the forum. Look up "alkaptonuria" at Merriam-Webster ... Look up "alkaptonuria" at dictionary.com English Definition Home Suggestions Search Tips See Also: alkalize alkalizer alkaloid alkaloidal ... alkylbenzenesulfonate alkaptonuria: in French in Italian in Spanish

97. Alkaptonuria Defects of Phenylalanine Metabolism alkaptonuria. alkaptonuria is a metabolic disease characterized by the accumulation of Homogentistic Acid (formerly http://www.mun.ca/biology/scarr/Alkaptonuira.htm

Defects of Phenylalanine Metabolism: Alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of Homogentistic Acid (formerly known as Alkapton ) in the urine. Exposure of homogentisic acid to light results in darkening, thus producing the characteristic "black diaper" disease.

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