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

[Health Topics A-Z] A B C D ... Z Alkaptonuria Medical Glossary: ALKAPTONURIA [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 5/30/2004

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

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:

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

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Alkaptonuria Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Alkaptonuria What is 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. How common is alkaptonuria? 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. What genes are related to alkaptonuria? 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

Biochemical genetics 1 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. Variation in proteins 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

Main Page See live article Alphabetical index Alkaptonuria 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. This article is from Wikipedia . All text is available under the terms of the GNU Free Documentation License

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

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.

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

Selected medical images OMIM Alkaptonuria CT and MRI findings of ochronosis Dura Mater Involvement in Ochronosis (Alkaptonuria) Sources Eurorad Print this page Edited by Aldo Campana, August 13, 2003

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

Genetic Disorders: Alkaptonuria 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'; Standard Listings 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 darkeni... 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... The Alkaptonuria Society Information about this genetic metabolic disorder for patients and professionals. Includes an FAQ, and a registration page for sufferers.

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

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: ALKAPTONURIA: Dictionary Entry and Meaning Pronunciation: al`kaptu'n»reeu 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

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Alkaptonuria Overview Symptoms Treatment Prevention 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. Home Health Info Our Physicians Our Services ... Make Appt.

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

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 347:2111-2121 December 26, 2002 Number 26 Next Natural History of Alkaptonuria Chanika Phornphutkul, M.D., Wendy J. Introne, M.D., Monique B. Perry, M.D., Isa Bernardini, M.Ed., Mark D. Murphey, M.D., Diana L. Fitzpatrick, B.A., Paul D. Anderson, B.A., Marjan Huizing, Ph.D., Yair Anikster, M.D., Lynn H. Gerber, M.D., and William A. Gahl, M.D., Ph.D. Full Text PDF PDA Full Text 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

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:1408 April 3, 2003 Number 14 Next Alkaptonuria Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text 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 HOME SEARCH CURRENT ISSUE ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and

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

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Alkaptonuria Web Site Links Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. 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. 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. 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. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative.

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

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - 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 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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