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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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Adam Health Encyclopedia
Disease alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air.
http://www.saintfranciscare.com/body.cfm?id=867&action=Display&articlenum=1200
Health, Conditions And Diseases, Genetic Disorders: Alkaptonuria
alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed.
http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Alkapton
Tropes
Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseases associated with chromosome 3 mutations alkaptonuria Cornelia De_lange_syndrome
http://freesense.free.fr/Diseases/d/0020.htm

Extractions: http://www.ncbi.nlm.nih.gov/genome/guide/HsChr3.shtml Human Chr 3 Pubmed Entrez BLAST OMIM Taxonomy Structure Search Genbank Genemap'99 Locuslink MEDLINE OMIM Unigene Maps dbsts for Human Genome Resources Select a Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y Mapviewer Chr 3 Locuslink Chr. 3 Loci Unigene Chr. 3 Clusters Mouse Homologies for Human Chr. 3 Chromosome 3 Disease Genes Microscopic section of a tumor commonly found in patients with von Hippel-lindau_disease . Image: Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseases associated with chromosome 3 mutations Alkaptonuria Cornelia Precedent Suivant Tropes Web V1.0
ALKAPTONURIA: Contact A Family - For Families With Disabled Children: Informatio
printer friendly, alkaptonuria, Further information on these resources can be found in our Medical Information on the Internet article. alkaptonuria SOCIETY.
http://www.cafamily.org.uk/Direct/a32.html

Extractions: 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.
Health - Conditions And Diseases - Genetic Disorders
Top Health Conditions and Diseases Genetic Disorders alkaptonuria alkaptonuria A brief discussion about this disease and its statistics world wide.
http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Alka

Extractions: Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Alkaptonuria See also: Health: Conditions and Diseases: Chronic Illness Health: Conditions and Diseases: Nutrition and Metabolism Disorders 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. The Alkaptonuria Society - An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources. 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. 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.
:: Ez2Find :: Alkaptonuria
Guide alkaptonuria, Guides, alkaptonuria. ez2Find Home Directory Health Conditions and Diseases Genetic Disorders alkaptonuria (5) Related Categories
http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode
The Molecular Basis Of Alkaptonuria.
alkaptonuria Ochronosis.
http://www.mgh.harvard.edu/depts/dermpath/Unkowns/ochronosis.htm
The Molecular Basis Of Alkaptonuria
The molecular basis of alkaptonuria. alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity.
http://www.mgh.harvard.edu/depts/dermpath/Unkowns/alkaptonuria.html

Extractions: The molecular basis of alkaptonuria. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S Nat Genet 1996 Sep;14(1):19-24 Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as a mendelian recessive trait by Garrod in 1902. Alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity. Affected individuals accumulate large quantities of homogentisic acid, an intermediary product of the catabolism of tyrosine and phenylalanine, which darkens the urine and deposits in connective tissues causing a debilitating arthritis. Here we report the cloning of the human HGO gene and establish that it is the AKU gene. We show that HGO maps to the same location described for AKU, illustrate that HGO harbours missense mutations that cosegregate with the disease, and provide biochemical evidence that at least one of these missense mutations is a loss-of-function mutation. Clinical triad: dark urine, dark skin, arthritis
Startplane /Health/Conditions_and_Diseases/Genetic_Disorders/Alkaptonuria
alkaptonuria. See also Links. alkaptonuria A brief discussion about this disease and its statistics world wide. Followed by a case
http://www.startplane.com/Health/Conditions_and_Diseases/Genetic_Disorders/Alkap

Extractions: See also: Links 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. 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. The Alkaptonuria Society - An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources. 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.
Medical Encyclopedia
Disease alkaptonuria. Alternative Names alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air.
http://www.medstarhealth.org/body.cfm?id=124&action=Display&articlenum=1200
Conditions And Diseases: Genetic Disorders: Alkaptonuria
Health and Home. alkaptonuria. Includes discussions, articles and related resources. http//www.alkaptonuria.info/. alkaptonuria. Last Update Mon May 10 2004.
http://www.health-home.net/Conditions_and_Diseases/Genetic_Disorders/Alkaptonuri
Homogentisic Acid
Testing Location, ACH Biochemical Genetics Lab, Testing Frequency, Alternate Name(s), alkaptonuria. Back . Page updated on Apr 26, 2004 at 0949 AM.
http://www.calgarylabservices.com/LabTests/AlphabeticalListing/H/Homogentisic-Ac

Extractions: Home Contact Us Useful Links Site Map ... Z List All Test Names Beginning With: A B C D ... Cytopathology 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
PharmGKB: Alkaptonuria
alkaptonuria. Alternate Names None. PharmGKB Primary Data. Phenotype Data Sets None. Literature Annotations. Related Genes, Relationship, Details. No data available.
http://www.pharmgkb.org/do/serve?objId=PA443313&objCls=Disease
Short Description Of Cell Lines. Pathology: Alkaptonuria *203500
Version 4.200205, Short description of cell lines. Pathology alkaptonuria *203500 OMIM record. By selecting the cell line name, you
http://www.biotech.ist.unige.it/cldb/pat43.html
Alkaptonuria
Home Health Conditions and Diseases Genetic Disorders alkaptonuria (4) alkaptonuria A brief discussion about this disease and its statistics world wide.
http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Al
Alkaptonuria - BlueRider.com
alkaptonuria. Your search results search for alkaptonuria on Google alkaptonuria n. 1), a rare recessive metabolic anomaly
http://www.bluerider.com/wordsearch/alkaptonuria
DermIS / Main Menu / DOIA / Alkaptonuria / Info
// information on the diagnosis alkaptonuria . definition. GER ALKAPTONURIE. POR ALCAPTONURIA. SPA ALCAPTONURIA. Do YOU suffer from alkaptonuria ?
http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=9005&topic=i
Alkaptonuria (a Case Report). Sachdeva JR, Gupta MM, Jindal VK J Postgrad Med
Year 1986 Volume 32 Issue 3 Page 1667,170A. alkaptonuria (a case report). alkaptonuria (a case report). J Postgrad Med 1986;32166-7,170A.
http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1986;volume=32;issue=3
Alkaptonuria (AKU) Maps To Chromosome 3q
The human gene for alkaptonuria (AKU) maps to chromosome 3q. Janocha Genomics 19 58 (1994). Abstract alkaptonuria (AKU; McKusick no. 203500
http://www.biozentrum.uni-wuerzburg.de/humangenetics/weenie/medl_alkap.html

Extractions: Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin. Mesh Headings Alkaptonuria*
PhatNav Directory - Health/Conditions_and_Diseases/Genetic_Disorders/Alkaptonuri
WebSites. alkaptonuria. A brief discussion about this disease and its statistics world wide. Followed standing. alkaptonuria and Ochronosis.
http://www.phatnav.com/directory/Health/Conditions_and_Diseases/Genetic_Disorder

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