21. Alkaptonuria Pedigree To the right is a pedigree of alkaptonuria, an inherited disorder first described by However, it is well documented that alkaptonuria is inherited as an 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.

22. Alkaptonuria - Genetics Home Reference What is alkaptonuria? alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Garrod's One Gene-One Enzyme Hypothesis alkaptonuria is characterized by the darkening of excreted urine after the alkaptonuria recurs in families. If one member of a sibship has the trait, 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.

24. Alkaptonuria alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys http://my.webmd.com/hw/health_guide_atoz/nord23.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Alkaptonuria Important 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. Synonyms Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis Disorder Subdivisions None General Discussion 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. Resources

25. Clinical Trial: Study Of Alkaptonuria In alkaptonuria, a pigment called homogentisic acid collects in bone and alkaptonuria has not been studied for decades; and scientists expect to gain http://www.clinicaltrials.gov/ct/gui/show/NCT00005909

Home Search Browse Resources ... About Study of Alkaptonuria This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) June 6, 2005 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques. Patients with alkaptonuria who are at least one month old may be eligible for this study. Participants will be evaluated at NIH's Clinical Center for 5 to 7 days every 1 to 2 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion, assess overall kidney function, and evaluate bone metabolism. A total of 89.5 ml (about 6 tablespoons) of blood will be drawn for these studies in adults and 51 ml (about 3 tablespoons) in children.

26. Clinical Trial: Long-Term Study Of Nitisinone To Treat Alkaptonuria Patients between 30 and 80 years of age with alkaptonuria may be eligible for Official Title LongTerm Clinical Trial of Nitisinone in alkaptonuria http://www.clinicaltrials.gov/ct/gui/show/NCT00107783

Home Search Browse Resources ... About Long-Term Study of Nitisinone to Treat Alkaptonuria This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) December 28, 2004 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This 3-year study will examine the safety and effectiveness of long-term use of nitisinone (Orfadin) for treating joint problems in patients with alkaptonuria, an inherited disease in which a compound called homogentisic acid accumulates. The excess homogentisic acid causes arthritis and limited joint movement. It can also cause heart valve damage and kidney stones. Patients between 30 and 80 years of age with alkaptonuria may be eligible for this study. Patients must have hip involvement, but at least one remaining hip joint. Candidates are recruited from among patients enrolled in protocol 00-HG-0141, "Clinical, Biochemical, and Molecular Investigations into Alkaptonuria." Participants may enter both protocols simultaneously. Participants are randomly assigned to one of two treatment groups: one group takes their regular medicines plus a 2-mg nitisinone capsule daily; the other group takes only their regular medicines. Patients taking nitisinone have blood tests to measure liver function 2 weeks and 6 weeks after starting treatment. Before starting therapy, all patients are admitted to the NIH Clinical Center for 4-5 days to undergo the following procedures:

27. Alkaptonuria Definition - Medical Dictionary Definitions Of Popular Medical Term Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=39942

28. ► Alkaptonuria A medical encycopedia article on the topic alkaptonuria. http://www.umm.edu/ency/article/001200.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; 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.

29. Alkaptonuria - Wikipedia, The Free Encyclopedia alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited A distinctive characteristic of alkaptonuria is that urine exposed to air http://en.wikipedia.org/wiki/Alkaptonuria

30. MedlinePlus Medical Encyclopedia: Alkaptonuria alkaptonuria is a rare inherited disorder of metabolism, characterized by urine that turns alkaptonuria is an autosomal recessive inherited disorder. http://www.nlm.nih.gov/medlineplus/ency/article/001200.htm

@import url(/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 that 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 may be brown-colored. Symptoms Return to top Infant or child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

31. Alkaptonuria alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition http://www.bchealthguide.org/kbase/nord/nord23.htm

var hwPrint=1;var hwDocHWID="nord23";var hwDocTitle="Alkaptonuria";var hwRank="1";var hwSectionHWID="nord23-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Alkaptonuria Important 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. Synonyms Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis Disorder Subdivisions None General Discussion 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. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

32. NORD - National Organization For Rare Disorders, Inc. Alcaptonuria (alternate spelling for alkaptonuria) alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alkaptonuria

33. NORD - National Organization For Rare Disorders, Inc. 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, http://www.rarediseases.org/nord/research/alka

Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. Index of Rare Diseases This is the list of diseases currently covered in the Rare Disease Database. Rare Disease Database Search this database for reports on more than 1,150 diseases. View sample report Index of Organizations This is the list of organizations in NORD's Organizational Database. Organizational Database Read about more than 2,000 patient organizations and other sources of help. NORD's Washington Office 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

34. 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

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 Web health.allrefer.com You are here : AllRefer.com Health Alkaptonuria Alkaptonuria Definition Prevention Treatment Expectations or Prognosis ... 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.

35. AllRefer Health - Alkaptonuria Complications (Alcaptonuria, Homogentisic Acid Ox alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, Ochronosis) information center covers Complications. http://health.allrefer.com/health/alkaptonuria-complications.html

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 Web health.allrefer.com You are here : AllRefer.com Health Alkaptonuria : Complications of Alkaptonuria Alkaptonuria Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider 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.

36. Dr. Koop - Alkaptonuria alkaptonuria is a rare inherited disorder of characterized by urine which turns black when exposed to air. Another characteristic is the development of in http://www.drkoop.com/ency/93/001200.html

Home Health Reference Alkaptonuria Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Alkaptonuria Injury Disease Nutrition Poison ... Prevention 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, 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. New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

37. Alkaptonuria: Definition And Much More From Answers.com alkaptonuria (Ochronosis) What is alkaptonuria? alkaptonuria is a rare disease that is inherited. The disease results from a deficiency of the enzyme. http://www.answers.com/topic/alkaptonuria

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Diagnosis Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping alkaptonuria Diagnosis Alkaptonuria (Ochronosis) 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?

38. Alkaptonuria: Information From Answers.com alkaptonuria A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. http://www.answers.com/topic/alkaptonuria-in-medicine

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical Term Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Alkaptonuria Medical Term Alkaptonuria A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis. The presence of HGA in the urine causes it to turn black upon standing when exposed to air. (Alkaptonuria was easily diagnosed among the nomadic Bedouin peoples because people with the disease left a characteristic dark spot in the sand marking the spot where they had urinated). The ochronosis is due to the accumulation of a bluish-black pigment in connective tissues that darkly discolors them. Ochronosis occurs only after 30 years. The pigment also accumulates in the cartilage of the joints and results in early-onset osteoarthritis. The arthritis often begins in the third decade of life when the patient is in their twenties. Other less common features of the alkaptonuria include pigment deposition (aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation), renal stones, and prostate stones.

39. Biochemical Genetics alkaptonuria biochemical pathway. Garrod observed that frequently more than one From his study of alkaptonuria Garrod developed the concept that certain 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.

40. Alkaptonuria Medical Information alkaptonuria Information from Drugs.com. alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed http://www.drugs.com/enc/alkaptonuria.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Alkaptonuria Injury Disease Nutrition Poison ... Z Alkaptonuria Definition Alkaptonuria is a rare inherited disorder of metabolism , characterized by urine that turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alternative Names Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Causes 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 may be brown-colored. Symptoms Infant or child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

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