1. ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE alkaptonuria CASE REPORT AND. REVIEW OF THE LITERATURE. Genetically, alkaptonuria is inherited as an autosomal recessive trait. 26 Janocha et al. 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. Index Information about this genetic metabolic disorder for patients and professionals. Includes an FAQ, and a registration page for sufferers. http://www.alkaptonuria.info/

home search help contact ... 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. If you would like to sponsor this web site then contact us here 20 November 2003 We are pleased to publish an abridged article from Professor H. de Valk and Zaira M. Barrientos at the University of Utrecht Medical centre. The full article will be published shortly 19 November 2003 - The other and possibly more significant development is that we have been asked to partner the University of Utrecht which is seeking funding from the EEC to create a Europe wide network to prepare for the definite clinical testing of nitisinone to test clinical efficacy and safety. This network will provide the framework for patient identification, recruitment and follow-up. The ultimate objective is the development of the first drug for patients with alkaptonuria.

4. EMedicine Pediatrics : - Online Medical Textbooks And Physician Reference Articl Background alkaptonuria was one of 4 disorders originally defined as an "inborn error of the US As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait http://www.emedicine.com/cgi-bin/foxweb.exe/showsection@/em/ga?book=ped&topi

5. Health And Medical Information: Diseases And Conditions, Medical Dictionary, Pro 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

6. Alkaptonuria Pedigree A Pedigree of alkaptonuria. To the right is a pedigree of alkaptonuria, an inherited disorder first described by Sir Archibald Garrod ( http://www.people.virginia.edu/~rjh9u/alkap.html

A Pedigree of Alkaptonuria To the right is a pedigree of alkaptonuria, an inherited disorder first described by Sir Archibald Garrod Accessing this link requires the Adobe Acrobat file viewer ). The main phenotype of this trait is that the urine turns black after awhile due to oxidation of the homogentisic acid excreted in the urine. At the biochemical level , the trait is due to a deficiency of the enzyme homogentisic oxidase in the pathway of tyrosine degradation. The pedigree shown best fits an autosomal dominant pattern of inheritance: the trait does not skip a generation where one parent is affected, about half of the progeny are affected the sexes are equally affected However, it is well documented that alkaptonuria is inherited as an autosomal recessive trait, like most enzyme deficiency disorders! This paradox can be resolved by collecting a bit more data on the family in this pedigree. As can be seen, there are two instances of consanguinous matings in the pedigree and the pattern of inheritance in the complete pedigree best fits with an autosomal recessive pattern. For rare, recessive traits, the parents of affected individuals are likely to be related in some way.

7. MedlinePlus Medical Encyclopedia: Alkaptonuria alkaptonuria. Definition Return to top. alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. http://www.nlm.nih.gov/medlineplus/ency/article/001200.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Alkaptonuria Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Definition Return to top 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. Causes, incidence, and risk factors Return to top 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. Symptoms Return to top Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

8. Garrod's One Gene-One Enzyme Hypothesis alkaptonuria is characterized by the darkening of excreted urine after the urine has been exposed to air where the urine was excreted (in the front!). alkaptonuria recurs in families http://www.people.virginia.edu/~rjh9u/garrod1.html

Garrod's One Gene - One Enzyme Hypothesis In the early part of this century (1902), Sir Archibald Garrod made several observations about a particular disease and proceeded to propose the hypothesis that the information for producing specific enzymes in humans is inherited. Observations Alkaptonuria is characterized by the darkening of excreted urine after the urine has been exposed to air for some time. The trait can be diagnosed in infants because their diapers are stained dark brown to black where the urine was excreted (in the front!). Alkaptonuria recurs in families. If one member of a sibship has the trait, another one may be found among the sibs. But parents of affected children usually did not have the trait although they often were related to each other (usually first cousins). Thoughts Many, specific chemical compounds are excreted in the urine as a result of biochemcial reactions in the body and the excretion of the end products of these reactions. Biochemical reactions in the body are speeded up by the action of enzymes (a recently discovered fact at that time). If an enzyme were to be absent, one step in a series of biochemical reactions may not occur leading to an accumulation of an intermediate in the reaction sequence.

9. Alkaptonuria - Arthritis: Health And Medical Information About Arthritis And Oth What is alkaptonuria? alkaptonuria is a rare disease that is inherited. alkaptonuria At A Glance. alkaptonuria is a rare inherited (genetic) disorder. http://www.medicinenet.com/Alkaptonuria/article.htm

MedicineNet Home Arthritis Home > Alkaptonuria Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page 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?

10. Alkaptonuria - Arthritis: Health And Medical Information About Arthritis And Oth alkaptonuria and Ochronosis. http://www.medicinenet.com/script/main/art.asp?articlekey=7804

11. EMedicine - Alkaptonuria : Article By Karl S Roth, MD alkaptonuria. Last Updated May 14, 2003, No medications are known to be useful in treating alkaptonuria. Vitamin C, up to 1 g/d, is http://www.emedicine.com/cgi-bin/foxweb.exe/showsection@/em/ga?book=ped&topicid=

12. EMedicine - Alkaptonuria : Article Excerpt By: Karl S Roth, MD eMedicine World Medical Library. (advertisement). Excerpt from alkaptonuria. Please click here to view the full topic text alkaptonuria. http://www.emedicine.com/ped/byname/alkaptonuria.htm

(advertisement) Excerpt from Alkaptonuria Synonyms, Key Words, and Related Terms: ochronosis, alcaptonuria, homogentisuria, dark urine Please click here to view the full topic text: Alkaptonuria Background: Alkaptonuria was one of 4 disorders originally defined as an "inborn error of metabolism" by Archibald Garrod in his Croonian Lectures of 1902. The hallmark of the disease is passage of urine that becomes black upon standing. Garrod identified a familial pattern of the disease and concluded that an inherited biochemical abnormality must result in the passage of an abnormal intermediate in the urine. It is remarkable that Garrod conceived of an intermediate given that virtually nothing was known at that time of serial biochemical reactions in the metabolic disposal of nutrient substances. Pathophysiology: The defect lies in the catabolic pathway of tyrosine, which contains a parahydroxylated ring structure. In a poorly understood, complex reaction, the enzyme phenylpyruvic acid oxidase is thought simultaneously to move the pyruvic acid side chain, decarboxylate it, and add an additional hydroxyl group to the ring. The product, homogentisic acid, is actually ortho-meta-dihydroxyphenylacetic acid. A deficiency of the enzyme homogentisic acid oxidase forces the accumulation of homogentisate, which is rapidly cleared in the kidney and excreted. Upon contact with air, homogentisate is oxidized to form a pigmentlike polymeric material responsible for the black color of standing urine. Although homogentisate levels are kept very low through rapid kidney clearance, over time homogentisic acid is deposited in cartilage throughout the body and is converted to the pigmentlike polymer through an enzyme-mediated reaction that occurs chiefly in collagenous tissues. As the polymer accumulates within cartilage, a process

13. Medical Encyclopedia: Alkaptonuria (Print Version) Medical Encyclopedia alkaptonuria. alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. http://www.nlm.nih.gov/medlineplus/print/ency/article/001200.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Alkaptonuria URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001200.htm Alternative 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. 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. Symptoms Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

14. Alkaptonuria Information Diseases Database alkaptonuria Homogentisate 1 2dioxygenase deficiency Homogentisic acid oxidase deficiency Ochronosis, Disease Database Information http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=409

15. 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

16. Alkaptonuria - Information / Diagnosis / Treatment / Prevention home genetic disorders alkaptonuria alkaptonuria. Web Directory ? alkaptonuria A brief discussion about this disease and its statistics world wide. http://www.healthcyclopedia.com/genetic-disorders/alkaptonuria.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > alkaptonuria Alkaptonuria Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Chronic Illness Nutrition and Metabolism Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "alkaptonuria" Health News: Search millions of published articles for news on Alkaptonuria Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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.

17. Clinical Trial: Study Of Alkaptonuria Study of alkaptonuria. This study is currently recruiting patients. Patients with alkaptonuria who are at least one month old may be eligible for this study. http://www.clinicaltrials.gov/ct/gui/show/NCT00005909?order=4

18. ORPHANET® : Alkaptonuria alkaptonuria. Direct access to data Summary Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. http://www.orpha.net/static/GB/alkaptonuria.html

Orphanet database access Alkaptonuria Direct access to data Summary 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 : S. Aymé M.D. (nov. 1999) * Clinical signs Autosomal recessive inheritance Increased skin pigmentation diffuse Metabolism of aminoacids abnormal Restricted joint mobility Kidney stones Vascular hypertension Update : 01/06/2004 Orphanet database access

19. Alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary Alkaptonuria, Ho alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary alkaptonuria, Homogentisic Acid Oxidase Deficiency, Homogentisic Acidura, Ochronosis http://www.icomm.ca/geneinfo/alkap.htm

Alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary Alkaptonuria, Homogentisic Acid Oxidase Deficiency, Homogentisic Acidura, Ochronosis, Ochronotic Arthritis,Homogentisate 1,2-dioxygenase deficiency For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Alkaptonuria also known as: Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis Homogentisate 1,2-dioxygenase deficiency View photos of this disorder Click on photos to enlarge them. (as defined by the National Organization for Rare Disorders Alkaptonuria is a very rare hereditary disorder that is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air (spontaneous oxidation) of homogentisic acid that accumulates in the urine. Homogentisic acid also accumulates in the body tissues. In normal functioning, the amino acid tyrosine is metabolized into homogentisic acid, and further into maleylacetoacetic acid.

20. Www.goodnet.com/~ee72478/enable/AKU.htm alkaptonuriaalkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition http://www.goodnet.com/~ee72478/enable/AKU.htm

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