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

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 Med Help Home Search Ask the Doctor ... Patient Network The medical glossary has been made possible by a generous donation from:

42. WIEM: Alkaptonuria (encyklopedia.pl)Category World Polska Leksykon Encyklopedia encyklopedia.pl A......alkaptonuria, choroba uwarunkowana dziedzicznie, w przebiegu której, wwyniku braku jednego z enzymów, tyrozyna nie ulega calkowitemu http://wiem.onet.pl/wiem/0095f2.html

wiem.onet.pl napisz do nas losuj: has³a multimedia Medycyna Alkaptonuria widok strony znajd¼ podobne 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

Alkaptonuria Back to previous level Ochronosis Search PUBMED for Ochronosis: All Review Therapy Diagnosis ... SPONDYLOEPIPHYSEAL DYSPLASIA, LATE; SEDL

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

Disease Injury Nutrition Poison ... Prevention Alkaptonuria 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, 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. Review Date: 10/26/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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

Disease Injury Nutrition Poison ... Prevention Alkaptonuria Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Symptoms: Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis , especially of the spine Darkening of the ear (from black staining of the cartilage in the ear) Dark spots on the sclera (white of the eye) and cornea Signs and tests: Urinalysis is positive for reducing substance. Further urine testing shows a positive ferric chloride test. Review Date: 10/26/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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

Search: search tips Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Alkaptonuria and Ochronosis 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

Alkaptonuria Disease type: Genetic Disorder 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. There is a connection between Alkopotnuria and Arthritis, but individuals will live a normal life-span.

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

The human gene for alkaptonuria (AKU) maps to chromosome 3q Janocha S; Wolz W ; Srsen S; Srsnova K; Montagutelli X; Guenet JL; Grimm T; Kress W; Muller CR Department of Human Genetics, University of Wurzburg, Federal Republic of Germany. Genomics 19: 5-8 (1994) Abstract 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* Chromosome Mapping Chromosomes, Human, Pair 3* DNA, Satellite

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

ERROR The DOI Handle you have entered is invalid. Please check the Handle and try again. For information on the Digital Object Identifier Handle, please visit the website of the DOI Foundation, at www.doi.org In order to contact Customer Services please click here

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

Alkaptonuria resources. Information for medical researchers, health professionals, bioscientists, and policy makers. Recommended References. [see index for total category] KEY ABSTRACTS: PUBMED Citations: Innovations and emerging technologies in Alkaptonuria, Patent List (when available) for Alkaptonuria: 6,399,383: Human papilloma virus vectors 6,309,823: Arrays of nucleic acid probes for analyzing biotransformation genes and methods of using the same 6,277,974: Compositions and methods for diagnosing and treating conditions, disorders, or diseases involving cell death 6,245,566: Human embryonic germ cell line and methods of use 6,218,169: Aromatic amino acid catabolism enzymes 6,214,384: Nanosheres comprising a biocompatible polysaccharide 6,156,501: Arrays of modified nucleic acid probes and methods of use 6,086,913: Liposomal delivery of AAV vectors 6,048,964: Compositions and therapeutic methods using morphogenic proteins and stimulatory factors 6,027,880: Arrays of nucleic acid probes and methods of using the same for detecting cystic fibrosis 5,976,567: Lipid-nucleic acid particles prepared via a hydrophobic lipid-nucleic acid complex intermediate and use for gene transfer

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

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Alkaptonuria ITEMS: 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. (Rating: 0.00 Votes: 0) Rate It Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0)

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

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease A Alkaptonuria Overview Symptoms Treatment Prevention Alternative names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Symptoms Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis , especially of the spine Darkening of the ear (from black staining of the cartilage in the ear) Dark spots on the sclera (white of the eye) and cornea 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 Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile

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

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. Click here for more information...

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

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Genetic_Disorders/Alkaptonuria Top Health Conditions and Diseases Genetic Disorders : Alkaptonuria Support Groups See also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Sites: 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. 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. Last update: 22:41 PT, Thursday, March 28, 2002

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