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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

The Alkaptonuria Society - Patient UK
The alkaptonuria Society Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information.
http://www.patient.co.uk/showdoc/27000827/

Extractions: Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin. Health Insurance . Visit the Patient UK finance channel for quotes on health insurance and other financial products such as mortgages, life insurance, etc.
Alkaptonuria - Patient UK
alkaptonuria Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information.
http://www.patient.co.uk/showdoc/40002334/

Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Synonyms: AKU, Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis This is an autosomal recessive condition of homogentisic acid oxidase deficiency, resulting from a set of inherited alleles on chromosome 3 (3q21-q23 - there are about 80 chromosomal variations). The deficiency results in deposits of pigmented polymers of homogentisic acid in many tissues including cartilage, tendons, nail beds, eyelids, cheeks, axillae, genital regions, eardrums, larynx and buccal mucosa. The name (alkaptonuria) originates from the dark colour of the urine due to the high level of 2,5-dehydroxyphenylacetic acid from the oxidisation and polymerisation of the homogentisic acid. Expression of the disease is multifactorial; a slightly raised occurrence of HLA-DR7 has been found. The main effect of the disease is to loosen the cross linking between collagen fibres and a lot of the pathology arises because of this.
Alkaptonuria Information Diseases Database
alkaptonuria,Homogentisate 1,2dioxygenase deficiency,Homogentisic acid oxidase deficiency,Ochronosis, Disease Database Information.
http://www.diseasesdatabase.com/ddb409.htm
Diagnose-Me: Condition: Ochronosis / Alkaptonuria
The Analyst (TM) Comprehensive Online Evaluations For Those Seeking Answers To Their Health Problems. Travel-Free Results, Now!
http://www.diagnose-me.com/cond/C451501.html

Extractions: Signs, symptoms and indicators Treatment recommendations Ochronosis is the muscoskeletal manifestation of alkaptonuria - a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine . It affects especially the large joints (hip, knees and vertebral column) by a progressive degenerative arthrosis The outward signs are the ocular (eye) and the skin pigmentations, the genito-urinary calculi (stones) and cardiovascular ochronosis (especially the aortic valve). The symptoms mostly begin within the third or fourth decade. It was Scribonius who described the first known case of ochronosis in 1584. He mentioned a schoolboy who passed urine black as ink. In 1902, Albrecht and Zdareck discovered the link with alkaptonuria. The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding. [ Laoussadi S., Menkes C.-J. Arthroses DEtiologie rare. Rev. Rhum. Ed. Fr., nr 9 bis, Vol. 61, Nov. 1994
Alkaptonuria
alkaptonuria and Ochronosis information and support An alkaptonuria and Ochronosis Notebook of information plus a Hotline for messages and support.
http://www.reference.com/Dir/Health/Conditions_and_Diseases/A/Alkaptonuria/
University Of Miami School Of Medicine - Glossary - Alkaptonuria
Where is the alkaptonuria gene and why is the disease unique in genetics (the Parents of a person with alkaptonuria each have one alkaptonuric gene and
http://www.med.miami.edu/glossary/art.asp?articlekey=7804
University Of Miami School Of Medicine - Glossary - Alkaptonuria
alkaptonuria A genetic metabolic disorder due to deficiency of the enzyme (alkaptonuria was easily diagnosed among the nomadic Bedouin peoples because
http://www.med.miami.edu/glossary/art.asp?articlekey=39942
Alkaptonuria
alkaptonuria Society. This Web site has been set up to provide information and support for those diagnosed with alkaptonuria. Brief information is provided
http://omni.ac.uk/browse/mesh/D000474.html

Extractions: low graphics broader: Amino Acid Metabolism, Inborn Errors other: Phenylketonurias Alkaptonuria Society This Web site has been set up to provide information and support for those diagnosed with alkaptonuria. Brief information is provided about its causes, symptoms and complications. News and articles on clinical management of the condition are available, and there is also a discussion page and links to other related sites. Patient Education Amino Acid Metabolism, Inborn Errors Alkaptonuria
NEJM -- Natural History Of Alkaptonuria
Original Article from The New England Journal of Medicine Natural History of alkaptonuria.
http://content.nejm.org/cgi/content/short/347/26/2111

Extractions: Full Text PDF PDA Full Text PowerPoint Slide Set ... PubMed Citation 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
NEJM -- Alkaptonuria
Correspondence from The New England Journal of Medicine alkaptonuria.
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
Alkaptonuria - Alegent Health Serving Eastern Nebraska And Southwest Iowa
alkaptonuria courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley,
http://www.alegent.com/11080.cfm

Extractions: Causes, incidence, and risk factors: 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.
Alkaptonuria - St. Joseph Mercy, Ann Arbor Michigan
alkaptonuria St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, Oakland County,
http://www.sjmercyhealth.org/12388.cfm

Extractions: It is possible that the main title of the report Alkaptonuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life. The condition is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine. CLIMB (Children Living with Inherited Metabolic Diseases)
Alkaptonuria - Information / Diagnosis / Treatment / Prevention
A brief discussion about this disease new window alkaptonuria and Ochronosis Description A detailed look at thesenew window alkaptonuria
http://www.healthcyclopedia.com/genetic-disorders/alkaptonuria.html
Alkaptonuria
alkaptonuria. alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups national coalition of consumers, professionals and genetic support
http://www.ability.org.uk/Alkaptonuria.html

Extractions: Our Aims Services Stats ... Z Alkaptonuria Alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups - national coalition of consumers, professionals and genetic support groups to voice the common concerns of children, adults and families living with, and at risk for, genetic conditions. Online Genetic Syndrome Support Groups - Sites are listed alphabetically by disease/conditon. Peter's Anomaly Support Group - An online support group for people dealing with Peter's Anomaly Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
Alkaptonuria - General Practice Notebook
alkaptonuria is caused by deficiency of homogentisic acid oxidase which converts homogentisic acid to acetoacetic acid. Homogentisic acid which accumulates
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.
Alkaptonuria - Washington DC
alkaptonuria Washington Hospital Center is located in Washington DC.
http://www.whcenter.org/15712.cfm

Extractions: Causes, incidence, and risk factors: 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.
Alkaptonuria
Base de données sur les maladies rares et les médicaments orphelins.
http://www.orpha.net/static/GB/alkaptonuria.html

Extractions: Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures lead to unusual pigmentation of the skin (brown/black) overlying cartilaginous structures. On occasion pigment is also seen in the sclera, in sweat after oxidation, and classically, in urine when left standing at room temperature. * author : Orphanet editorial team (nov. 1999) * Clinical signs Update : 04/09/2005 Orphanet database access
Alkaptonuria
In addition, a mutation causing alkaptonuria has been described in mouse and mapped to Analysis of the alkaptonuria mutations and polymorphisms has also
http://www.alkaptonuria.cib.csic.es/alkaptonuria.htm

Extractions: AKU database Alkaptonuria Alkaptonuria (AKU; McKusick nº ) is a rare autosomal recessive disorder of both historical and medical interest. It represents a classical example of a discrete biochemical lesion resulting from a single gene deficiency that gives rise to a degenerative disease (O'Brien et al., 1963). AKU patients are deficient for homogentisate 1,2 dioxygenase activity (HGO, EC 1.13.11.5 (La Du et al., 1958). This enzyme deficiency results in the accumulation of homogentisic acid (HGA), an intermediary metabolite in phenylalanine and tyrosine catabolism. In AKU patients, HGA is excreted in large amounts into the urine, which darkens on standing. This staining of the urine, which can be detected from early childhood, is the first and best known manisfestation of the disease and the one that brought it to clinical attention. Over the years, benzoquinone acetic acid (an oxidation product of HGA) is deposited either directly or as a polymer into connective tissues, causing their pigmentation (ochronosis) and eventually leading to serious arthropathy (Reviewed in La Du, 1995). AKU was the first disease to be interpreted as a single gene trait. In 1902 Garrod reported the mode of inheritance in AKU (
Disease - Alkaptonuria - Hartford, Connecticut
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.
Netter Medical Images - Search Results For Alkaptonuria
Netterimages.com The most trusted name in medical illustration PRICING ARTISTS REGISTER LOGIN. SEARCH RESULTS. 1 IMAGES IN SELECTION PAGE 1 OF 1
http://www.netterimages.com/image/list.htm?s=Alkaptonuria

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