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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

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AllRefer Health - Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficien
alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis) information center covers causes, prevention, symptoms, diagnosis, treatment
http://health.allrefer.com/health/alkaptonuria-info.html

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis 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. 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.
AllRefer Health - Alkaptonuria Complications (Alcaptonuria, Homogentisic Acid Ox
alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis) information center covers Complications. alkaptonuria.
http://health.allrefer.com/health/alkaptonuria-complications.html

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis Alkaptonuria Complications Accumulation of homogentisic acid products in the cartilage causes arthritis in about 50% of older adults with alkaptonuria. Homogentisic acid products can accumulate on the heart valves, especially the mitral valve, sometimes leading to the need for valve replacement. Coronary artery disease may develop earlier in people with alkaptonuria.
Alkaptonuria
alkaptonuria Important It is possible that the main title of the report alkaptonuria is not the name you expected. Please check
http://my.webmd.com/hw/health_guide_atoz/nord23.asp

Extractions: 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.
Disease Directory : Genetic Disorders : Alkaptonuria
alkaptonuria A brief discussion about this disease and its statistics world wide. Followed standing. alkaptonuria - alkaptonuria.
http://www.diseasedirectory.net/Genetic_Disorders/Alkaptonuria/default.aspx

Extractions: Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Alkaptonuria 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 - Alkaptonuria. Disease type: Genetic Disorder Chromosome : 3 Pathology. Aetiology. The gene for Alkaptonuria is a recessive mutation. Alkaptonuria - Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition ALKAPTONURIA - Features Listed For ALKAPTONURIA. McKusick: 203500. Abnormal urinary colour; Aminoaciduria; Arterial stenosis; Blue sclera; Calcification of ear cartilage; Alkaptonuria - Alkaptonuria. Alkaptonuria (AKU; McKusick nÂº 203500) is a rare autosomal recessive disorder of both historical and medical interest. Alkaptonuria Alkaptonuria - More Alkaptonuria Categories: Â» Submit Your Site to the Alkaptonuria category. Submit Your Site to the Alkaptonuria category. Featured Partners. ALKAPTONURIA - ALKAPTONURIA - The excretion of homogentisic acid (alkapton) in the urine due to the congenital absence of the enzyme homogentisate 1,2-dioxygenase.
Disease Directory : Alkaptonuria
A Zellweger Syndrome. Diseases Genetic Disorders alkaptonuria alkaptonuria. Directory Listing. Title alkaptonuria
http://www.diseasedirectory.net/detailed/9986.aspx
Alkaptonuria Definition Of Alkaptonuria. What Is Alkaptonuria? Meaning Of Alkapt
Definition of alkaptonuria in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of alkaptonuria.
http://www.thefreedictionary.com/alkaptonuria

Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Noun alkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine alcaptonuria metabolic disorder - a disorder or defect of metabolism Legend: Synonyms Related Words Antonyms Some words with "Alkaptonuria" in the definition: alcaptonuria
Diagnose-Me: Conditions: Ochronosis / Alkaptonuria
Ochronosis / alkaptonuria, Signs, symptoms indicators of Ochronosis / alkaptonuria Symptoms Nails, Blue and brown fingernails.
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
Features Listed For alkaptonuria. McKusick 203500. Abnormal urinary colour; Aminoaciduria; Arterial stenosis; Blue sclera; Calcification of ear cartilage;
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?53
Aku - Alkaptonuria
Features Listed For aku alkaptonuria. Abnormal urinary colour; Aminoaciduria. Chromosome 16;A-B5. MOUSE GENOME DATABASE (MGD).
http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-look-up?59
Alkaptonuria
alkaptonuria,. Print this article, a rare hereditary the disease. Elderly persons with alkaptonuria may be completely disabled. Radiography
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/ALKAPTONURIA.A

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alkaptonuria, a rare hereditary metabolic disorder resulting from an inability to metabolize homogentisic acid due to absence of the enzyme homogentisic acid oxidase. Homogentisic acid in the urine is oxidized to a melanin-like product, which makes urine gradually turn dark. Ochronosis refers to the bluish-black pigmentation of connective tissue that may ensue, and ochronotic arthropathy results from the pigmented deposits in the joints of the appendicular and axial skeleton. Ochronotic arthropathy The most characteristic manifestations of ochronotic arthropathy are widespread discal calcification, with loss of intervertebral disc height, and a distinctive arthropathy of axial and extra-axial joints (Table 1). Initial clinical manifestations may be seen in the hips, knees, and shoulders, with pain and limitation of motion. Joint effusions result from fragmentation of friable cartilage, with subsequent irritation of the synovial membrane. Stiffness and low back pain, obliteration of the normal lumbar curve, thoracic kyphosis, and restriction of motion are spinal manifestations of the disease. Elderly persons with alkaptonuria may be completely disabled. Radiography reveals discal calcification, which is the most characteristic abnormality of the spine. The calcification consists of apatite crystals and occurs predominantly in the inner fibers of the anulus fibrosus. Narrowing of the intervertebral disc space and vacuum phenomenon are also characteristic manifestations of alkaptonuria (
Alkaptonuria
Other characters, alkaptonuria,. Print this article, For a general description, see alkaptonuria. HC. The Encyclopaedia of Medical Imaging Volume VII.
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ALKAPTONURIA.ASP

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alkaptonuria, inborn error of metabolism in which there is absence of homogentisic acid oxidase and therefore inability to metabolize homogentisic acid. Homogentisic acid in the urine oxidizes and the urine turns black. Bluish black pigmentation of connective tissue (ochronosis) and arthropathy occur with pigmented deposits in joints with calcification of hydroxyapatite crystals. For a general description, see alkaptonuria
Alkaptonuria
alkaptonuria. alkaptonuria (AKU; McKusick nº 203500) is a rare autosomal recessive disorder of both historical and medical interest.
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 (
NORD - National Organization For Rare Disorders, Inc.
alkaptonuria. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1984, 1985, 1987, 1989, 1992, 1999, 2000, 2003, 2004 Synonyms of alkaptonuria
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alkaptonuria
NORD - National Organization For Rare Disorders, Inc.
alkaptonuria. Researchers at the National Institutes of Child Health and Human Development at the NIH seek people with alkaptonuria to take part in a new study.
http://www.rarediseases.org/nord/research/alka

Extractions: Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Alkaptonuria Researchers at the National Institutes of Child Health and Human Development at the NIH seek people with alkaptonuria to take part in a new study. Alkaptonuria is a rare genetic disease seen in all population groups, with a slight concentration in people of Czech or Dominican descent. The disease damages several systems in the body, and is characterized by painful joints (especially hip and spine), discoloration of the ear, dark spots in the whites of the eye, and dark color of bone. There is currently no treatment or cure. Study results should improve the understanding of the disease. There is no charge to patients who take part. For more information about this National Institutes of Health (NIH) study, go to
Alkaptonuria
V W X Y Z . Back Home Next. alkaptonuria. alkaptonuria and Ochronosis Notebook. Alliance of Genetic Support Groups national
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
alkaptonuria. broader Amino Acid Metabolism, Inborn Errors. other Phenylketonurias. alkaptonuria Society. This Web site has been
http://omni.ac.uk/browse/mesh/C0002066L0002066.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
Genetic Disorders, Alkaptonuria
More alkaptonuria Categories » Submit Your Site to the alkaptonuria category. Sponsored alkaptonuria Sites. Submit Your Site to the alkaptonuria category.
http://www.iseekhealth.com/alkaptonuria-1547.php

Extractions: 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.
Alkaptonuria - Wikipedia, The Free Encyclopedia
alkaptonuria. alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism.
http://en.wikipedia.org/wiki/Alkaptonuria

Extractions: 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. Views Personal tools Navigation Search Toolbox What links here Related changes Special pages This page was last modified 13:42, 17 Nov 2002. All text is available under the terms of the GNU Free Documentation License (see for details).
Alkaptonuria Information Diseases Database
alkaptonuria,Homogentisate 1,2dioxygenase deficiency,Homogentisic acid oxidase deficiency,Ochronosis, Disease Database Information.
http://www.diseasesdatabase.com/ddb409.htm
University Of Miami School Of Medicine - Glossary - Alkaptonuria (Ochronosis)
Diseases and Conditions. alkaptonuria (Ochronosis). alkaptonuria is also known as homogentisic acid oxidase deficiency. alkaptonuria At A Glance.
http://www.med.miami.edu/patients/glossary/art.asp?articlekey=7804

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