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 Category Health Conditions and Diseases alkaptonuria......alkaptonuria CASE REPORT AND. REVIEW OF THE LITERATURE. Genetically, alkaptonuriais 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. Alkaptonuria Pedigree 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). 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.

4. Alkaptonuria alkaptonuria jest to choroba uwarunkowana dziedzicznie, w przebiegu której, w wyniku braku jednego z enzymów, tyrozyna nie ulega cakowitemu rozkadowi. http://www.dermajetics.com.pl/alfabetzdrowia/alkaptonuria.htm

Alkaptonuria Alkaptonuria jest to choroba uwarunkowana dziedzicznie, w przebiegu której, w wyniku braku jednego z enzymów, tyrozyna nie ulega ca³kowitemu rozk³adowi. Produkt jej przemiany - kwas homogentyzynowy - gromadzi siê w chrz¹stkach, stawach, œciêgnach, naczyniach krwionoœnych i skórze, jest tak¿e wydalany z moczem, który ciemnieje po zetkniêciu z powietrzem. Alkaptonuria prowadzi do zapalenia stawów i œciêgien.

5. EMedicine - Alkaptonuria : Article By Karl S Roth, MD alkaptonuria. Last Updated October 30, 2001, No medications are knownto be useful in treating alkaptonuria. Vitamin C, up to 1 g http://www.emedicine.com/cgi-bin/foxweb.exe/showsection@/em/ga?book=ped&topicid=

6. EMedicine - Alkaptonuria : Article Excerpt By: Karl S Roth, MD Excerpt from alkaptonuria. Synonyms, Key Words, and Related Terms ochronosis.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 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

7. 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

8. OMIM ENTRY 203500 alkaptonuria, choroba uwarunkowana dziedzicznie, w przebiegu której, w wyniku braku jednego z enzymów, tyrozyna nie ulega cakowitemu http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203500

9. 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

10. Alkaptonuria Disease alkaptonuria. OMIM number 203500 http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/765.html

Disease : Alkaptonuria OMIM number : Body System : Metabolic disorder Type : Inheritance pattern : AR Incidence/prevalence : P Population surveyed : Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Janocha S. et al. The human gene for alkaptonuria maps to chromosome 3. Genomics 1994; 194: 5-8. Comments :

11. Garrod's One Gene-One Enzyme Hypothesis The one gene one enzyme hypothesis proposed in 1902. Includes observations, thoughts, hypotheses, Category Science Biology History People Garrod, Archibald...... Observations alkaptonuria is characterized by the darkening of excretedurine after the urine has been exposed to air for some time. 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.

12. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Alkap

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

13. Www.goodnet.com/~ee72478/enable/AKU.htm Similar pages MEDLINEplus Medical Encyclopedia alkaptonuriaalkaptonuria. Definition Return to top alkaptonuria is a rare inherited disorderof metabolism characterized by urine which turns black when exposed to air. http://www.goodnet.com/~ee72478/enable/AKU.htm

14. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alkaptonuria Similar pages More results from www.nlm.nih.gov Open Directory Health Conditions and Diseases Genetic the entire directory. alkaptonuria - A brief discussion about this diseaseand its statistics world wide. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alkaptonuria

15. Alkaptonuria Professionals only. alkaptonuria,, Print this article, a the disease. Elderlypersons with alkaptonuria may be completely disabled. Radiography http://www.amershamhealth.com/medcyclopaedia/Volume III 1/alkaptonuria.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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.

16. Alkaptonuria alkaptonuria,, Print this article, For a general description, see alkaptonuria.HC The Encyclopaedia of Medical Imaging Volume VII, http://www.amershamhealth.com/medcyclopaedia/Volume VII/ALKAPTONURIA.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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 HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

17. 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

18. 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

19. Alkaptonuria/Ochronosis Study Group Translate this page alkaptonuria/Ochronosis Study Group. Members and Contributors, Aims Electroniccollection of clinical data. Sites of interest. Scopi Cos'è l'alcaptonuria. http://www.dfc.unifi.it/aku/default.htm

Alkaptonuria/Ochronosis Study Group Members and Contributors Aims Electronic collection of clinical data Sites of interest ... Siti di interesse Last Updated, January 21 2002

20. Clinical Form To Enter Cases In A Alkaptonuria/ochronosis Database Clinical form to enter cases in a alkaptonuria/ochronosis database. Please, fillas many fields as possible. All data will be strictly confidential (*). http://www.dfc.unifi.it/aku/formeng.htm

Clinical form to enter cases in a alkaptonuria/ochronosis database Please, fill as many fields as possible. All data will be strictly confidential (*). Name (first three letters) Surname (first three letters) Sex F M Birth Date (dd/mm/yy) Age at the present visit Mother's origin (specify the geographic area) Mother's ethnic group Father's origin (specify the geographic area) Father's ethnic group Consanguineity between mother and father YES NO If YES, specify Number brothers/sisters To exclude the presence of the metabolic defect in the other sibs, please, perform the fast test to detect the presence of homogentisic acid in the urine: add to a urine sample some drops of NaOH 1M. Test is positive if the color of the urine turns brown-black. If the fast test is positive in brothers/sisters, please fill another form. Assay of homogentisic acid in the urine (specify methods and units used) Are you willing to send biological material ? YES NO CLINICAL FINDINGS Pigment deposition auricles YES NO nails YES NO sclerae YES NO skin YES NO Other (specify): Valvular heart disease aortic YES NO mitralic YES NO Genito-urinary calculi bladder YES NO prostate YES NO Ipoacusia YES NO Ochronotic Arthropathy spine involvement YES NO If present, please fill in the following part:

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

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