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Alkaptonuria: more detail

Alkaptonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Margaret, PhD Alic, 2005
Alkaptonuria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
The Genetic Basis of Alkaptonuria. Contained in Proceedings of the Royal Society of Edinburgh Session 1931-32, Volume 52, Issue 3 pages 264-295. by Lancelot Hogden , 1932-01-01
Skin Conditions Resulting From Errors in Metabolism: Phenylketonuria, Adrenoleukodystrophy, Gout, Porphyria, Lafora Disease, Alkaptonuria

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Alkaptonuria - Definition Of Alkaptonuria In The Medical Dictionary - By The Fre
Definition of alkaptonuria in the Medical Dictionary and Thesaurus. alkaptonuria explanation. Information about alkaptonuria in Free online English
http://medical-dictionary.thefreedictionary.com/alkaptonuria
Alkaptonuria
alkaptonuria. alkaptonuria. AKU. Homogentisic acid oxidase deficiency. Ochronosis, hereditary. Painted black Painted black Ocular ochronosis in
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=18
Justgiving - Donate To The Alkaptonuria Society Ltd.
The alkaptonuria Society Ltd. registered charity 1101052. The charity s objectives are to educate people in all matters relating to alkaptonuria Disease
http://www.justgiving.com/alkaptonuria/donate

Extractions: Shortcuts: Select one... Justgiving.com Home Justgiving.com USA site Do you want to... - Create a fundraising page - Donate to charity - Sponsor a friend - Edit your fundraising page Services for.... - Charities - Companies The Alkaptonuria Society Ltd. registered charity: #1101052 The charity's objectives are to educate people in all matters relating to Alkaptonuria Disease and its causes, effects and treatments particularly through its website; to relieve the suffering of people with the disease by providing information and advice; to carry out research into the causes, effects, treatment and management of the disease and disseminate useful results. Contact details Raise money for this charity Donate now I want to make a: single monthly donation of Other :
Justgiving - Raise Money For The Alkaptonuria Society Ltd.
Raise money for The alkaptonuria Society Ltd. with a Personal Fundraising Page. The charity s objectives are to educate people in all matters relating to
http://www.justgiving.com/alkaptonuria/raisemoney

Extractions: For fundraisers For sponsors Raise money for The Alkaptonuria Society Ltd. with a Personal Fundraising Page The charity's objectives are to educate people in all matters relating to Alkaptonuria Disease and its causes, effects and treatments particularly through its website; to relieve the suffering of people with the disease by providing information and advice; to carry out research into the causes, effects, treatment and management of the disease and disseminate useful results. Welcome to our online fundraising area. This is where you can build your own personal fundraising page for any event, from one of our top events featured on the right, to a sponsored silence or birthday. Quick Start click on the name of your event to build your page New York Marathon 2005
PharmGKB: Alkaptonuria
alkaptonuria. Alternate Names, None. PharmGKB Primary Data. Phenotype Datasets. None. Pathways. None. Literature Annotations. Related Genes, Relationship ?
http://www.pharmgkb.org/do/serve?objId=PA443313&objCls=Disease
Alkaptonuria
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/ALKAPTONURIA.a

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 (
Alkaptonuria
Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/ALKAPTONURIA.asp

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Alkaptonuria, inborn error of tyrosine catabolism causing accumulation of homogentisic acid in connective tissue of cartilage, heart valves and arteries. This accumulation may cause aortic stenosis and arteriosclerosis . For a general description of the disease, see alkaptonuria
Alkaptonuria
Short description of cell lines. Pathology alkaptonuria *203500Version 4.200205. Short description of cell lines. Pathology alkaptonuria *203500 OMIM record. By selecting the cell line name, you will receive the
http://healthcentral.com/ency/408/001200.html

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Health/Conditions And Diseases/Genetic Disorders/Alkaptonuria -- The Doctors Lou
Ask the doctor. Get free medical consultation and advice. Choose a medical specialist and post your question! Doctors in all medical fields are available.
http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor
Alkaptonuria
This website is all about a genetic disorder called alkaptonuria. Here you will find information about the disorder and also lots of other info.
http://alkaptonuria.tripod.com/

Extractions: Search: Lycos Tripod 40 Yr Old Virgin Share This Page Report Abuse Edit your Site ... New Page Title Alkaptonuria Hello and welcome to Hammad and Saad's website.This website is all about a genetic disorder called Alkaptonuria. Here you will find information about the disorder and also lots of other info. While you guys are surfing around, you guys can also visit the "Informative Links" section for more information on Alkaptonuria. I hope you find this information useful. Arthritis.jpg Alkaptonuria 1 Alkaptonuria 2 Alkaptonuria 3 ... Arthritis What's New? Here I might add an entry whenever I make an update to my web site. Where appropriate, I'll include a link to the change. For example:
Alkaptonuria Articles, Support Groups, And Resources
alkaptonuria articles, support groups, and resources for patients from Med Help International (www.medhelp.org)
http://www.medhelp.org/HealthTopics/Alkaptonuria.html
//// COLOURlovers :: Alkaptonuria #8BBAFF
COLOURlovers.com alkaptonuria 8BBAFF. alkaptonuria by transmit failure 8BBAFF login to comment . 2006-2005 by COLOURlover
http://www.colourlovers.com/index.cfm?section=colours&view=display&colour=1000
Spine - Abstract: Volume 25(16) August 15, 2000 P 2141-2144 Alkaptonuria With Lu
alkaptonuria With Lumbar Disc Herniation A Report of Two Cases. Two cases of lumbar disc herniation with alkaptonuria are presented. Objectives.
http://www.spinejournal.com/pt/re/spine/abstract.00007632-200008150-00021.htm

Extractions: Study Design. Two cases of lumbar disc herniation with alkaptonuria are presented. Objectives. To present a probable clinical course of lumbar disc herniation with alkaptonuria, a rare metabolic disease. Summary of Background Data. Although lumbar disc disease is a common clinical occurrence in alkaptonuria, lumbar disc surgery is needed rarely in this disease. A patient with alkaptonuria without ochronotic signs is also rarely seen. Methods. The cause, clinical presentation, diagnostic techniques and treatment of alkaptonuria with lumbar disc disease are reviewed. Results. The symptoms of the patients disappeared after surgery, and there were no symptoms on follow-up. Conclusion. Alkaptonuria frequently occurs in association with lumbar disc disease. In patients with no other signs of alkaptonuria or ochronosis, early detection of the disease is important to treat involvement of other systems (e.g., cardiovascular and urinary).
Spine - UserLogin
alkaptonuria With Lumbar Disc Herniation A Report of Two Cases Two cases of lumbar disc herniation with alkaptonuria are presented. Objectives.
http://www.spinejournal.com/pt/re/spine/fulltext.00007632-200008150-00021.htm
Alkaptonuria Dogra Alka, Bajwa GS, Bajwa Navjot, Khurana Shallu - Indian J Derma
A case of alkaptonuria, a rare autosomal recessive metabolic disorder is being alkaptonuria is a rare metabolic disorder first described by Garrod.
http://www.ijdvl.com/article.asp?issn=0378-6323;year=2001;volume=67;issue=5;spag
Early Detection Of Alkaptonuria Verma Shyam B - Indian J Dermatol Venereol Lepro
alkaptonuria is a rare disorder of metabolism characterized by deficiency of alkaptonuria is a rare metabolic disease and is caused by deficiency of the
http://www.ijdvl.com/article.asp?issn=0378-6323;year=2005;volume=71;issue=3;spag
Health Encyclopedia
alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the
http://healthcontent.baptisteast.com/adamcontent/ency/article/001200.asp

Extractions: Overview Symptoms Treatment Prevention Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis 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. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored. Infant/child: Adult: Progressive arthritis, especially of the spine
Choroby Genetyczne - Alkaptonuria
alkaptonuria jest choroba dziedziczaca sie autosomalnie recesywnie i wystepuje z alkaptonuria moze dotknac wielu ukladów w naszym organizmie np
http://www.republika.pl/chorobygenetyczne/Alkaptonuria.htm

Extractions: ALKAPTONURIA document.write("" + day + month); document.write(myweekday + ", " + year + ""); ALKAPTONURIA - jest chorob± dziedzicz±c± siê autosomalnie recesywnie i wystêpuje z czêstotliwo¶ci± ok. 1 na 1 000 000 osób, nieco czê¶ciej u mê¿czyzn ni¿ u kobiet. Wyst±pienie tej choroby jest zwi±zane z brakiem aktywno¶ci oksydazy homogentyzynowej (HGAO) w w±trobie i nerkach. Enzym ten bierze udzia³ w przemianie fenyloalaniny i tyrozyny, przekszta³caj±c powsta³y z tyrozyny kwas homogentyzynowy (dawniej zwany alkaptonem) w kwas maleiloacetooctowy. W wyniku braku aktywno¶ci tego enzymu dochodzi do kumulowania kwasy homegentyzynowego w organizmie. Gen koduj±cy oksydazê kwasu homogentyzynowego zlokalizowany jest na d³ugim ramieniu chromosomu 3 (3q21). Alkaptonuria mo¿e dotkn±æ wielu uk³adów w naszym organizmie np: Uk³ad kostny - najczê¶ciej s± zajête kolana, ramiona i biodra; czêsto dochodzi do artropati (zwyrodnienia stawów). Depozyty barwnika powoduj± ¿e chrz±stka traci swoj± sprê¿ysto¶æ; pocz±tkowo twardnieje, a potem staje siê krucha i ³amliwa.
Alkaptonuria
alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns alkaptonuria is an autosomal recessive inherited disorder.
http://www.shands.org/health/information/article/001200.htm

Extractions: Causes, incidence, and risk factors: 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. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored.
Disease - Alkaptonuria - Detroit, Michigan
Disease alkaptonuria - courtesy of Henry Ford Health System of Detroit, Michigan.
http://www.henryfordhealth.org/12224.cfm

Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Back to main Health Information page 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. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Causes And Risk: 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. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored. Prevention: Like most genetic diseases, alkaptonuria itself cannot be prevented, but some of the manifestations, such as arthritis, can be minimized by treatment.

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