Alkaptonuria And Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment Category Health Conditions and Diseases Alkaptonuriaochronosis is a blueblack discoloration of bone, cartilage, and skin caused by depositsof ochre-colored pigment. Subscribe now . Alkaptonuria and ochronosis. http://healthlink.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.
Ochronosis College's Collaborative Hypertext of Radiology offers a brief overview of the degenerative disease ochronosis. Access related medical articles. alkaptonuria brown/black urine. ochronosis brown/black pigmentation of skin, mucous membranes http://chorus.rad.mcw.edu/doc/00016.html
E-Doc: Ochronosis Medical Dictionary. ochronosis http://www.edoc.co.za/medilink/dict/2827.html
SmartEngine - SmartGuide ( DISEASE : Ochronosis ) All about DISEASE ochronosis from SmartEngine.com Alkaptonuria and ochronosis. A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and http://disease.smartengine.com/shell/smartpage/Ochronosis
Extractions: Signs, symptoms and indicators Ochronosis is the muscoskeletal manifestation of alkaptonuria - a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine . It affects especially the large joints (hip, knees and vertebral column) by a progressive degenerative arthrosis The outward signs are the ocular (eye) and the skin pigmentations, the genito-urinary calculi (stones) and cardiovascular ochronosis (especially the aortic valve). The symptoms mostly begin within the third or fourth decade. It was Scribonius who described the first known case of ochronosis in 1584. He mentioned a schoolboy who passed urine black as ink. In 1902, Albrecht and Zdareck discovered the link with alkaptonuria. The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding. [ Laoussadi S., Menkes C.-J. Arthroses DEtiologie rare. Rev. Rhum. Ed. Fr., nr 9 bis, Vol. 61, Nov. 1994
Www.goodnet.com/~ee72478/enable/AKU.htm Similar pages ochronosis is the Muscoskeletal Manifestation of Alkaptonuria~ Version 2.0, last updated 21 February 2002 ~ ochronosis CLINICAL MANIFESTATIONS ochronosisis the muscoskeletal manifestation of alkaptonuria. http://www.goodnet.com/~ee72478/enable/AKU.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Metabolic Diseases Last Updated: July 3, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Craig G Burkhart, MSPH, MD , Clinical Professor, Department of Internal Medicine, Medical College of Ohio at Toledo Coauthor(s): Craig Nathaniel Burkhart, BS , Consulting Staff, Medical College of Ohio at Toledo Craig G Burkhart, MSPH, MD, is a member of the following medical societies: American Academy of Dermatology Ohio State Medical Association , and Phi Beta Kappa Editor(s): C Lisa Kauffman, MD , Chief of Dermatology, Associate Professor, Departments of Internal Medicine and Pathology, Georgetown University Medical Center; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Warren R Heymann, MD
Ochronosis Spinal Manifestations Figure 2 and 3 Spinal Manifestations of ochronosis, Figure 2 Dorsalkyphosis and flattened lumbar lordosis. Figure 3 Ochronotic http://www.orthoweb.be/cases/images/ochron23.htm
Alkaptonuria/Ochronosis Study Group Alkaptonuria/ochronosis Study Group Members and Contributors Aims Electronic collection of clinical data Sites of interest Scopi Cos'è l'alcaptonuria Raccolta elettronica di dati clinici Siti di interesse Last Updated, January 21 2002 http://www.dfc.unifi.it/aku
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
Ochronosis Medical Encyclopdia article about ochronosis A resource with information on over 4000 medical topics including ochronosis http://www.marylandms.com/medical-terms/03114.htm
Extractions: 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 If present, please fill in the following part:
EMedicine - Ochronosis : Article By Craig G Burkhart, MSPH, MD ochronosis ochronosis is the bluish-black discoloration of certain tissues, suchas the ear cartilage and ocular tissue, seen with alkaptonuria, a metabolic http://www.emedicine.com/derm/topic476.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Metabolic Diseases Last Updated: July 3, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Craig G Burkhart, MSPH, MD , Clinical Professor, Department of Internal Medicine, Medical College of Ohio at Toledo Coauthor(s): Craig Nathaniel Burkhart, BS , Consulting Staff, Medical College of Ohio at Toledo Craig G Burkhart, MSPH, MD, is a member of the following medical societies: American Academy of Dermatology Ohio State Medical Association , and Phi Beta Kappa Editor(s): C Lisa Kauffman, MD , Chief of Dermatology, Associate Professor, Departments of Internal Medicine and Pathology, Georgetown University Medical Center; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Warren R Heymann, MD
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Cosmetics Last Updated: November 5, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 4 Author Information Introduction A Comprehensive Review Of The Literature Bibliography Author: Michael P Tabibian, MD , Consulting Staff, Department of Dermatology, Daniel Freedman Hospital, Marina Hospital Michael P Tabibian, MD, is a member of the following medical societies: Phi Beta Kappa Editor(s): Zoe Diana Draelos, MD, PA , Clinical Associate Professor, Department of Dermatology, Wake Forest University; Clinical Associate Professor, Department of Dermatology, Bowman Gray School of Medicine; David F Butler, MD , Interim Chair, Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Christen M Mowad, MD , Assistant Professor, Department of Dermatology, Geisinger Medical Center, Pennsylvania State College of Medicine; Catherine Quirk, MD
Ochronosis only. ochronosis,, Print this article, the bluishblack pigmentationoccurring in connective tissue of patients with alkaptonuria. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/OCHRONOSIS.asp
Ochronosis Professionals only. ochronosis,, Print this article, see alkaptonuriaHC The Encyclopaedia of Medical Imaging Volume VII, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume VII/OCHRONOSIS.asp
Example Site - O Ochronosis ochronosis ochronosis This is a metabolic abnormality involving thesurface of the skin of the face as well as the whites of the http://www.totalskincare.com/library/totalskincare_o_ochronosis.html
Ochronosis (alkaptonuria) ochronosis (alkaptonuria). Cases. Deeb Z, Frayha RA Multiple vacuum discs,and early sign of ochronosis. Radiologic findings in two brothers. http://www.gentili.net/list4.asp?ID=117
