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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 Articles, Support Groups, And Resources
    alkaptonuria articles, support groups, and resources for patients from Med Help International (www.medhelp.org). alkaptonuria. Medical Glossary alkaptonuria.  
    http://www.medhelp.org/HealthTopics/Alkaptonuria.html

42. ALKAPTONURIA
    alkaptonuria The excretion of homogentisic acid (alkapton) in the urine due to 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

43. Alkaptonuria- Medcohealth.com
    alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. alkaptonuria. Source ADAM, Inc.  
    http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

44. Alkaptonuria - Genetics Home Reference
    alkaptonuria. What is alkaptonuria? alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. How common is alkaptonuria?  
    http://ghr.nlm.nih.gov/condition=alkaptonuria
    
    Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Alkaptonuria Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Dark pigment builds up in connective tissues such as cartilage and skin. The condition is also characterized by arthritis in adulthood. The condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. Mutations in the HGD gene cause alkaptonuria. The HGD gene makes an enzyme called homogentisate oxidase, which helps break down the amino acids phenylalanine and tyrosine (important building blocks of proteins) into smaller molecules. Mutations in the HGD gene prevent the enzyme from playing its role in this process. As a result, a substance called homogentisic acid builds up in the body. Excess homogentisic acid is deposited in connective tissues, which causes cartilage and skin to darken and leads to arthritis. Homogentisic acid is also in present in urine, which makes the urine turn dark when exposed to air.

45. Biochemical Genetics
    Sir Archibald Garrod. Garrod s concept of these disorders came mainly from his studies on the rare disorder alkaptonuria. This is  
    http://www.ucl.ac.uk/~ucbhjow/b241/biochemical.html
    
    Extractions: It is obvious to us all that we all differ from one another, and that many of these differences ‘run in families’. Apart from identical twins people can readily be distinguished, from their facial features and many other attributes. This high level of individuality is reflected in our DNA. Both non-coding and coding DNA show a great deal of person to person variation. The existence of variation at a molecular and biochemical level has been known for nearly 100 years, that is long before the first human DNA sequences were read. Some of the early biochemical traits to be identified took more than 50 years to be elucidated at the level of the gene. In contrast more recently the gene defect in many genetic diseases has been elucidated by sequencing of DNA with no knowledge at all of the function of the protein product. Genetic variation in functional regions of the genome can fall into several different categories with respect to its effect on the individual and the frequency of the allele in the population. A single amino-acid substitution can have very severe effects but it may be unimportant if it is outside critical regions of functional importance.

46. Health Library -
    alkaptonuria. Synonyms report. Synonyms. Alcaptonuria (alternate spelling for alkaptonuria); Alkaptonuric Ochronosis; Hereditary alkaptonuria;  
    http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

47. Alkaptonuria
    alkaptonuria. alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism.  
    http://www.fact-index.com/a/al/alkaptonuria.html
    
    Extractions: Main Page See live article Alphabetical index 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.

48. Alkaptonuria/Ochronosis Study Group
    http://www.dfc.unifi.it/aku/default.htm

49. Clinical Form To Enter Cases In A Alkaptonuria/ochronosis Database
    Clinical form to enter cases in a alkaptonuria/ochronosis database. Please, fill as many fields as possible. All data will be strictly confidential (*).  
    http://www.dfc.unifi.it/aku/formeng.htm

50. 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.

51. Alkaptonuria
    Selected medical images OMIM alkaptonuria. CT and MRI findings of ochronosis; Dura Mater Involvement in Ochronosis (alkaptonuria); i00039985-125-07-0961-f01.  
    http://www.gfmer.ch/Genetic_diseases/Developmental_genetic_diseases/Alkaptonuria

52. Genetic Disorders: Alkaptonuria
    Genetic Disorders alkaptonuria. alkaptonuria. A brief discussion about this disease and its statistics world wide. alkaptonuria and Ochronosis.  
    http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Al
    
    Extractions: Home Health Conditions and Diseases Genetic Disorders : Alkaptonuria google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000';

53. ALKAPTONURIA - Meaning And Definition Of The Word
    Search Dictionary alkaptonuria Dictionary Entry and Meaning. Pronunciation al`kaptu n»reeu. WordNet Dictionary.  
    http://www.hyperdictionary.com/dictionary/alkaptonuria
    
    Extractions: WordNet Dictionary Definition: [n] a rare recessive metabolic ... urine Synonyms: alcaptonuria See Also: metabolic disorder Biology Dictionary Definition: This illness, caused by a recessive gene that causes a deficiency of the enzyme homogensitic acid deoxygenase, was the first recognized genetic disease. It is characterized by abnormal deposits in the connective tissue and urine which turn dark when exposed to air. Severe arthritis and blockages in arteries and heart valves can occur in later stages of the disease. Its incidence is about one in a million. Synonyms: dark urine disease HOME ABOUT HYPERDICTIONARY

54. Alkaptonuria
    alkaptonuria. Disorders, Inc. Important It is possible that the main title of the report alkaptonuria is not the name you expected.  
    http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord23

55. ► Alkaptonuria
    alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air.  
    http://www.umm.edu/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.

56. NEJM -- Natural History Of Alkaptonuria
    Original Article from The New England Journal of Medicine Natural History of alkaptonuria. alkaptonuria. N Engl J Med 348 14081408 Full Text.  
    http://content.nejm.org/cgi/content/abstract/347/26/2111
    
    Extractions: Letters ... Chapters at Harrison's ABSTRACT Background Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. Methods We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical, radiographic, biochemical, and molecular methods. A radiographic scoring system was devised

57. NEJM -- Alkaptonuria
    PreviousPrevious, Volume 3481408, April 3, 2003, Number 14. Next Next. alkaptonuria. To the Editor In alkaptonuria, discussed by Phornphutkul et al. (Dec.  
    http://content.nejm.org/cgi/content/short/348/14/1408
    
    Extractions: Add to Personal Archive ... PubMed Citation To the Editor: In alkaptonuria, discussed by Phornphutkul et al. (Dec. 26 issue), tissue injury is induced by a product benzoquinone acetic acid (BQA). The oxidation of HGA to BQA is catalyzed by polyphenol oxidase. Accordingly, therapy for alkaptonuria should be aimed at reducing BQA levels through the inhibition of 4-hydroxyphenyl-pyruvate dioxygenase (i.e., with the use of nitisinone). Nitisinone can reduce HGA production while increasing levels of plasma tyrosine and phenylalanine. Thus, measuring the BQA level during a trial with nitisinone would be helpful. As described by Wolff Full Text of this Article

58. 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.georgetownuniversityhospital.org/body.cfm?id=18&action=Display&articl

59. Conditions And Diseases - Alkaptonuria Top Links
    alkaptonuria Web Site Links. alkaptonuria discussed. alkaptonuria A brief discussion about this disease and its statistics world wide.  
    http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

60. Disease - Alkaptonuria - Hartford, Connecticut , Saint Francis Care
    Disease alkaptonuria - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease  
    http://www.saintfranciscare.com/1874.cfm
    
    Extractions: Back 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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