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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

lists with details

41. ALKAPTONURIA
    alkaptonuria The excretion of homogentisic acid (alkapton) in the urine dueto the congenital absence of the enzyme homogentisate 1,2-dioxygenase.  
    http://www.medhelp.org/glossary2/new/GLS_0222.HTM
    
    Extractions: ALKAPTONURIA - The excretion of homogentisic acid (alkapton) in the urine due to the congenital absence of the enzyme homogentisate 1,2-dioxygenase. This enzyme mediates the breakdown of the amino acids phenylalanine and tyrosine. The urine may be quite dark, particularly when allowed to stand. Often asymptomatic until adulthood. Manifestations include arthritis

42. WIEM: Alkaptonuria
    (encyklopedia.pl)Category World Polska Leksykon Encyklopedia encyklopedia.pl Aalkaptonuria, choroba uwarunkowana dziedzicznie, w przebiegu której, wwyniku braku jednego z enzymów, tyrozyna nie ulega calkowitemu  
    http://wiem.onet.pl/wiem/0095f2.html
    
    Extractions: poka¿ powi±zane Alkaptonuria , choroba uwarunkowana dziedzicznie, w przebiegu której, w wyniku braku jednego z enzymów, tyrozyna nie ulega ca³kowitemu rozk³adowi. Produkt jej przemiany - kwas homogentyzynowy - gromadzi siê w chrz±stkach, stawach, ¶ciêgnach, naczyniach krwiono¶nych i skórze, jest tak¿e wydalany z moczem, który ciemnieje po zetkniêciu z powietrzem. Alkaptonuria prowadzi do zapalenia stawów i ¶ciêgien. Powi±zania Choroby metaboliczne wrodzone wiêcej zobacz wszystkie serwisy do góry Encyklopedia zosta³a opracowana na podstawie Popularnej Encyklopedii Powszechnej Wydawnictwa Fogra

43. Alkaptonuria
    alkaptonuria. Back to previous level Ochronosis Search PUBMED for OchronosisAll Review Therapy Diagnosis; alkaptonuria / Ochronosis Med. Coll.  
    http://www.ohsu.edu/cliniweb/C18/C18.452.648.66.187.html

44. Alkaptonuria
    alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolismcharacterized by urine which turns black when exposed to air.  
    http://www.pennhealth.com/ency/article/001200.htm
    
    Extractions: Causes, incidence, and risk factors: Alkaptonuria is an autosomal recessive inherited disorder. It is a disorder of tyrosine (an amino acid) metabolism resulting from a defect in the enzyme homogentisic acid oxidase. 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.

45. Alkaptonuria
    alkaptonuria. Alternative Names Symptoms Infant/child Family history of alkaptonuria;Urine in diaper may darken after several hours (can become almost black).  
    http://www.pennhealth.com/ency/article/001200sym.htm

46. Alkaptonuria And Ochronosis
    alkaptonuria and Ochronosis. alkaptonuria is a rare disease in which the bodydoes not have enough of an enzyme called homogentisic acid oxidase (HGAO).  
    http://oci.mcw.edu/article/921733488.html
    
    Extractions: Subscribe now >> 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.

47. Ochronosis (alkaptonuria)
    Ochronosis (alkaptonuria). Cases. Am J Clin Pathol 1988 Jul;90(1)95102. See relatedarticles. Search Medline for alkaptonuria. Related differential diagnosis.  
    http://www.gentili.net/list4.asp?ID=117

48. Alkaptonuria
    alkaptonuria. Cases. Rev Clin Esp 1997 Nov;197(11)7712. See related articles.Search Medline for alkaptonuria. Related differential diagnosis.  
    http://www.gentili.net/list4.asp?ID=596

49. Alkaptonuria
    alkaptonuria. Disease type Genetic Disorder Chromosome 3 Pathology. Aetiology.The gene for alkaptonuria is a recessive mutation.  
    http://www.diseasedir.org.uk/genetic/gene0301.htm
    
    Extractions: Chromosome : Pathology The diagram to the left shows the normal metabolic pathway for the degredation of excess Phenylalanine. This pathway exists to remove phenylalanine from the system, so that it can be excreted, in this case it is excreted as water, and exhaled as Carbon Dioxide. The pathway on the right shows the same pathway but in Alkapotunuria sufferers. The enzyme which degrades Homogentisic acid (HA Oxidase) has a defect which causes it to be inoperable. HA Oxidase no longer performs it's task, and Homogentisic acid builds up to levels which may become toxic to the individual, unless excreted. In contrast to Phenylketonuria Homogentesic acid can be excreted normally in the urine. Aetiology The gene for Alkaptonuria is a recessive mutation. Both copies of the gene are required before the disease will manifest itself. Symptoms Alkapotnuria is not a life threatening genetic disorder, the disease indicates itself by it's effect on the persons urine. When the urine is exposed to the air the homogentisic acid reacts with the air and turns black.

50. Alkaptonuria (AKU) Maps To Chromosome 3q
    The human gene for alkaptonuria (AKU) maps to chromosome 3q. Janocha Genomics19 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*

51. Nature Publishing Group: Error Page
    Article. Allelic heterogeneity of alkaptonuria in Central Europe.CR Müller 1,a , A Fregin 1 , S Srsen 2 , K Srsnova 2 , B Halliger  
    http://www.nature.com/doifinder/10.1038/5200343

52. Nature Publishing Group
    Case report. alkaptonuria presenting as lumbar disc prolapse case report andreview of literature. Keywords. alkaptonuria; ochranosis; disc prolapse; spine.  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/sc/journal/v36/n7/abs/3100562a.

53. Health Library - Alkaptonuria
    alkaptonuria. Synonyms report. Synonyms. Alcaptonuria (alternate spellingfor alkaptonuria); Alkaptonuric Ochronosis; Hereditary alkaptonuria;  
    http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

54. Alkaptonuria Resource Updates
    alkaptonuria resources. Information Turkey. pinarb@ato.org.tr Ochronoticarthropathy is the musculoskeletal manifestation of alkaptonuria.  
    http://www.health.xq23.com/inst/Research_Updates/Alkaptonuria.html

55. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Study of alkaptonuria. This study is currently recruiting patients. Patients withalkaptonuria who are at least one month old may be eligible for this study.  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00005909?order=20

56. Alkaptonuria : Meddie Health Search
    ITEMS LINKS alkaptonuria A brief discussion about this diseaseand its statistics world wide. Followed by a case study of a 4  
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Al

57. Www.cib.csic.es/~akudb/alkaptonuria.htm
    Similar pages Health Ency. Disease alkaptonuria alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolismcharacterized by urine which turns black when exposed to air.  
    http://www.cib.csic.es/~akudb/alkaptonuria.htm

58. Health Ency.: Disease: Alkaptonuria
    alkaptonuria. Symptoms. Infant/child Family history of alkaptonuria; Urinein diaper may darken after several hours (can become almost black).  
    http://www.accessatlanta.com/shared/health/adam/ency/article/001200sym.html
    
    Extractions: Important notice Ency. home Disease A Alkaptonuria Overview Symptoms Treatment Prevention Alternative names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Symptoms Infant/child: Adult: Signs and Tests Urinalysis is positive for reducing substance. Further urine testing shows a positive ferric chloride test. Ency. home Disease A Please read this Important notice

59. Alkaptonuria - General Practice Notebook
    alkaptonuria. alkaptonuria is caused by deficiency of homogentisic acidoxidase which converts homogentisic acid to acetoacetic acid.  
    http://www.gpnotebook.co.uk/cache/-1181089792.htm
    
    Extractions: alkaptonuria Alkaptonuria is caused by deficiency of homogentisic acid oxidase which converts homogentisic acid to acetoacetic acid. Homogentisic acid which accumulates in the urine oxidises on standing, turning the urine black. The tissues may become darkened, described as ochronosis, and there may be associated degenerative changes. This condition, in contrast to phenylketonuria, has no effect on intelligence. However, cartilage deposition may result in degenerative arthritis.

60. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders
    the entire directory. Sites alkaptonuria A brief discussion about this diseaseand its statistics world wide.  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

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