Alkaptonuria (ochronosis) Alkaptonuria (ochronosis). Cases. Case Title, Source. ochronosis, OSTEOARTHRITIS,CALCIFICATIONS OF THE INTERVERTEBRAL DISCS, Faculté de Médecine de Rennes. http://www.gentili.net/diaglist.asp?Id=.595&Diag=Alkaptonuria (ochronosis)
LearningRadiology-Ochronosis ochronosis Alkaptonuria. Rare hereditary disorder More common inmales 21. Insufficiency of homogentisic acid oxidase. Results in http://www.learningradiology.com/notes/bonenotes/ochronosispage.htm
Extractions: Alkaptonuria Insufficiency of homogentisic acid oxidase Results in excessive homogentisic acid excreted in urine and deposited in soft tissue Urine may be black Sclera may be grey-brown or yellow Cartilage of nose and ears may be bluish in color Clinical findings are combination of spondylitis and arthritis of major joints Usually affects large joints-knees, shoulders, hips Chondrocalcinosis of appendicular joints may develop In the spine: Universal disc calcification and DJD of root joints (hips and shoulders) in younger patient are pathognomonic Murray and Jacobson, 2
LearningRadiology-Ochronosis ochronosis Alkaptonuria. Return to case. Rare hereditary disorderMore common in males 21. Insufficiency of homogentisic acid oxidase. http://www.learningradiology.com/archives/COW 025-Ochronosis/ochronosisccorrect.
Extractions: Alkaptonuria Return to case Insufficiency of homogentisic acid oxidase Results in excessive homogentisic acid excreted in urine and deposited in soft tissue Urine may be black Sclera may be grey-brown or yellow Cartilage of nose and ears may be bluish in color Clinical findings are combination of spondylitis and arthritis of major joints Usually affects large joints-knees, shoulders, hips Chondrocalcinosis of appendicular joints may develop In the spine: Universal disc calcification and DJD of root joints (hips and shoulders) in younger patient are pathognomonic Murray and Jacobson, 2
Arch Ophthalmol -- Page Not Found 118;724725, May 2000, Ocular Manifestations of Alkaptonuric ochronosis, JordanCheskes, MD; Helmut Buettner, MD. The pathology of alkaptonuric ochronosis. http://archopht.ama-assn.org/issues/v118n5/ffull/epe90067-1.html
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Alkaptonuria And Ochronosis Receive HealthLink via email! Subscribe now . Alkaptonuria and ochronosis. Alkaptonuriaand ochronosis affect many body systems, as described below. http://oci.mcw.edu/article/921733488.html
Extractions: Subscribe now >> 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.
Roche Lexikon Medizin (4. Aufl.) - Ochronosis Translate this page ochronosis. engl. ochronosis. (VIRCHOW, BOSTRÖM) blauschwärzl. Verfärbungvon Bindegewebe u. Knorpel durch Einlagerung eines »ockerfarbenen http://www.gesundheit.de/roche/ro27500/r27500.html
Ochronosis - General Practice Notebook ochronosis. The term ochronosis is used to describe the darkening of tissuesas a consequence of accumulation of homogentisic acid polymer in cartilage. http://www.gpnotebook.co.uk/cache/-1174011904.htm
MANIFESTATIONS OF OCULAR OCHRONOSIS - A CASE REPORT MANIFESTATIONS OF OCULAR ochronosis A CASE REPORT. Y. Krause, W.Lieb. ochronosis is a complication of a rare hereditary metabolic http://www.dog.org/engl/abstract97/P536.html
Extractions: MANIFESTATIONS OF OCULAR OCHRONOSIS - A CASE REPORT Y. Krause, W. Lieb Ochronosis is a complication of a rare hereditary metabolic disease alkaptonuria, in which the enzyme homogentisic acid oxidase is missing. This metabolic defect causes an accumulation of an intermediate product in the metabolism of phenylalanin and tyrosine in bradythrophic tissues. The cardinal features are presence of homogentisic acid in the urine and darkening of the urine, ochronosis and degenerative arthritis. The diagnostic tests are based on the urinanalysis and the detection of homogentisic acid in blood and other tissue. The X-ray changes of the lumbosacral region are pathognomonic for the ochronotic arthritis. Since 1996 it is possible to search for thegcne mutation in alkaptonuria patients. Case report: Wc present a 7 1-year old female, who was referred to our hospital witb suspicion of choroidal melanoma. We initially diagnosed an alkaptonuria by the appearance of the typical sypmptom trias: the pigmentation of the conjunctiva, sclera and cornea, and also the greyisb blue pigmentation of the car cartilage. The diagnostic tests showed the presence of homogentisic acid in blood and urine. The patient gave a history of a severe arthritis with some surgical interventions. Conclusion: The ocular manifestation was not the cardinal symptom, but lead to the initial diagnosis of ochronosis and alkaptonuria in a 71 year old patient.
Arthritis, Ochronosis Arthritis, ochronosis. The radiographic findings in arthritis associated withochronosis are indistinguishable from classic degenerative arthritis. http://imc.gsm.com/integrated/msk/mspath/enneking/sect08/ochronos.html
Extractions: About Table of Contents Arthritis Help Introduction Pathophysiology Clinical Manifestations Radiographic Findings ... References Return directly to Degenerative Arthritis Ochronosis is a metabolic disease in which all of the collagen-containing tissues are affected by the deposition of the black pigment homogentisic acid. The predilection for deposition of this pigment in articular cartilage leads to a high incidence of disabling degenerative arthritis in these patients. Ochronosis is a hereditary disorder of tyrosine degradation due to the lack of the enzyme homogentisic acid oxidase which results in excessive accumulation of homogentisic acid. When excreted, it causes darkening of the urine on exposure to air, a condition known as alkaptonuria . The excess homogentisic acid results in accumulation of its dark oxidative product in all collagen-containing structures with a predilection for articular cartilage. The homogentisic acid is thought to disrupt collagen cross-linkage with weakening of the matrix. The cartilage is, therefore, unable to bear physiologic loads, and its subsequent breakdown initiates the cycle of degenerative arthritis. Darkened urine is usually the first sign of the disease and may be the only indication of its presence for many years. With time, pigmentation of the sclerae, earlobes, dorsum of the knuckles and other aspects of the skin appear. The onset of degenerative arthritis occurs in early adult life well before the onset of classic degenerative arthritis due to aging.
DISEASE: Ochronosis DISEASE ochronosis. Categories (11 of 1). Health Conditions_and_DiseasesGenetic_Disorders Alkaptonuria. previous more categories , Web Pages. http://disease.bigtome.com/big/page/Ochronosis
Dermatology.cdlib.org/rxderm-archives/ochronosis ochronosis A 46 yo African woman(visiting from the Congo) has been using a bleaching cream (available in http://dermatology.cdlib.org/rxderm-archives/ochronosis
Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Alkaptonuria Information Guide 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. A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
OCHRONOSIS (Search FastHealth.com) OCHRONOSIS Dictionary FastHealth Email This! ochro·no·sis n, pl no*ses a conditionoften associated with alkaptonuria and marked by pigment http://www.fasthealth.com/dictionary/o/ochronosis.php
Alkaptonuria Alternative Names Alcaptonuria; Homogentisic acid oxidase deficiency;ochronosis. Causes, incidence, and risk factors Alkaptonuria http://www.pennhealth.com/ency/article/001200.htm
Extractions: 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.
Ochronosis ochronosis. A Medical Encyclopedia Article provided by Maryland General Hospital.A resource with information on over 4000 medical topics including ochronosis. http://www.bloodandmarrowtransplant.com/medical-terms/03114.htm
