1. ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE 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 http://www.kfshrc.edu.sa/annals/185/98-055.html

ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE M. Al-Essa, MD; L. Al-Shamsan; M.S. Rashed, PhD ; P.T. Ozand, MD PhD Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis. It enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed and is also one of the conditions in the charter of group of inborn errors of metabolism. It is of interest to note that the disease was identified in 1500 BC in an ancient egyptian mummy. The manifestations are urine that turns dark on standing and alkalinization due to excretion of excessive amounts of homogentisic acid, large joint arthritis and black ochronotic pigmentation of cartilage and collagenous tissue. This disease is unusually frequent in Slovakia and the Dominican Republic. More than 126 patients have been reported from Czechoslovakia, 108 from Germany, and 90 from the United States. In countries of the Middle East, the disease was first reported from Lebanon in 1958 and from Sudan in 1965.

2. Alkaptonuria And Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. http://healthlink.mcw.edu/article/921733488.html

Search Articles: search tips Please Take the HealthLink Survey 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.

3. Home Information about this genetic metabolic disorder for patients and professionals. Includes an FAQ, and a registration page for sufferers. http://www.alkaptonuria.info/

...this is a brand new site and we really need your comments and suggestions. If you have any ideas on what we should include in this site then post a message in the discussion page or contact us directly here... ...and check out the registration page. We're hoping to collate a database of Alkaptonuria sufferers world wide. We particularly welcome registrations from people who would be interested in assisting research programs and drug trials. We need more articles on what living with Alkaptonuria is like. We get a lot of feedback on the personal articles. We believe that the sharing of peoples individual experiences creates a perspective for other sufferers. So keep on submitting those articles. If you would like to sponsor this web site then contact us here... Home Latest News Archive News ... Contact to The Alkaptonuria Society website.. Our aim is simple - to create an information and support network for those people diagnosed with the condition. Our job is to find the latest news, research and treatments and provide you with the best information we can. But remember this is your web and we hope you will share your news and experiences. First ever UK research into Alkaptonuria is starting We're working with Liverpool Medical School to research how Alkaptonuria damages the bone. This has never been researched before, yet it is a crucially important area to understand how the disease affects the body.

4. Alkaptonuria And Ochronosis alkaptonuria is a rare disease in which the body does not have enough of a specific enzyme. Ochronosis is a blueblack discoloration of bone http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. ALKAPTONURIA CASE REPORT AND REVIEW OF THE LITERATURE alkaptonuria CASE REPORT AND REVIEW OF THE LITERATURE. M. AlEssa, MD; alkaptonuria a case report. Saudi Med J (letter) 1991;12438-9. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. EMedicine - Alkaptonuria : Article By Karl S Roth, MD alkaptonuria alkaptonuria is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902. http://www.emedicine.com/ped/topic64.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Alkaptonuria Last Updated: July 2, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: ochronosis, alcaptonuria, homogentisuria, dark urine, inborn error of metabolism, IEM, Croonian lectures, abnormal intermediate, homogentisic acid oxidase, homogentisate, vitamin C, arthritis, osteoarthritis, rheumatoid arthritis, ankylosis, dark stained diapers AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Karl S Roth, MD , Chair, Professor, Department of Pediatrics, Creighton University School of Medicine Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Society for Pediatric Research , and Southern Society for Pediatric Research Editor(s): James Bowman, MD

7. ? Alkaptonuria A medical encycopedia article on the topic alkaptonuria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Alkaptonuria - Arthritis And Arthritic Conditions, Medications, And Treatment On Explains arthritis conditions includes symptoms, causes, medications, and treatment. Written and reviewed by a Rheumatologist. http://www.medicinenet.com/alkaptonuria/article.htm

document.writeln(''); MedicineNet Home Arthritis Home Page > Alkaptonuria Search Tips Printer-Friendly Format FREE Newsletters Email to a Friend ... Next Alkaptonuria (Ochronosis) What is alkaptonuria? How is alkaptonuria inherited? What is ochronosis? How does alkaptonuria affect the joints? ... Alkaptonuria At A Glance What is alkaptonuria? Alkaptonuria is a rare disease that is inherited. The disease results from a deficiency of the enzyme homogentisic acid oxidase. This enzyme deficiency leads to a build up of homogentisic acid in tissues of the body. Alkaptonuria is known to be especially frequent in Slovakia and in the Dominican Republic. How is alkaptonuria inherited? Alkaptonuia is a classic recessive condition. The gene for it is on a nonsex (autosomal) chromosome. Parents of a person with alkaptonuria each have one alkaptonuric gene and a normal gene paired with it. They have no symptoms of alkaptonuria at all. Each of their children has a one-quarter (25%) chance to receive both of their normal genes, a one-half (50%) chance to receive one alkaptonuric and one normal gene (and seem entirely normal) and a one-quarter (25%) chance to receive both of their alkaptonuric genes and have alkaptonuria (ochronosis). What is ochronosis?

9. Health And Medical Information Produced By Doctors - MedicineNet.com 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. http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=7804

10. The Alkaptonuria Society An information and support network for those people diagnosed with alkaptonuria. Includes discussions, articles and related resources. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Www.medicinenet.com/rss/specialty/Alkaptonuria.xml http://www.medicinenet.com/rss/specialty/Alkaptonuria.xml

http://www.medicinenet.com/Alkaptonuria/index.htm MedicineNet Alkaptonuria Specialty en-us Tue, 9 Aug 2005 00:00:00 PDT Tue, 9 Aug 2005 00:00:00 PDT http://www.medicinenet.com/images/mn_144x35.gif http://www.medicinenet.com/script/main/hp.asp Tue, 9 Aug 2005 00:00:00 PDT Thu, 14 Jul 2005 00:00:00 PDT Fri, 13 May 2005 00:00:00 PDT Sat, 16 Apr 2005 00:00:00 PDT Sun, 4 Aug 2002 00:00:00 PDT

12. EMedicine Pediatrics : - Online Medical Textbooks And Physician Reference Articl 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. http://www.emedicine.com/cgi-bin/foxweb.exe/showsection@/em/ga?book=ped&topi

13. Justgiving - Donate To The Alkaptonuria Society Ltd. Quicklinks. The alkaptonuria Society Ltd. registered charity 1101052 to educate people in all matters relating to alkaptonuria Disease and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Alkaptonuria - Genetics Home Reference Where can I find additional information about alkaptonuria? alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. http://ghr.nlm.nih.gov/condition=alkaptonuria

Home What's New Browse Handbook ... Search 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 References Alkaptonuria On this page: What is alkaptonuria? How common is alkaptonuria? ... help with understanding alkaptonuria? What is alkaptonuria? Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People with alkaptonuria typically develop arthritis in adulthood, particularly in the spine and large joints. 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?

15. MedlinePlus Medical Encyclopedia Alkaptonuria alkaptonuria Contents of this page Alternative names. Definition. Causes, incidence, and risk factors. Symptoms. Signs and tests. Treatment http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Entrez PubMed alkaptonuria, a rare autosomalrecessive disorder caused by mutations in the HGD Eighty-eight patients with a possible diagnosis of alkaptonuria were http://ghr.nlm.nih.gov/condition=alkaptonuria/show/PubMed

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 40 Review: 5 Items 1 - 20 of 40 of 2 Next Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA.

17. NEJM Natural History Of Alkaptonuria Original Article from The New England Journal of Medicine Natural History of alkaptonuria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Alkaptonuria Pedigree A Pedigree of alkaptonuria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. GeneReviews: Alkaptonuria Your browser does not support HTML frames so you must view alkaptonuria in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=alkap

20. Alkaptonuria - Wikipedia, The Free Encyclopedia alkaptonuria Retrieved from "http//en.wikipedia.org/wiki/Alkaptonu. .. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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