Document Detail


Alkaptonuria.
MedLine Citation:
PMID:  20229718     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homogentisic acid oxidase. The main clinical feature is dark brown color of urine caused by high urinary output of homogentisic acid. There are no other symptoms or signs of the disease until the fourth decade of life when ochronosis is developed. Life-long accumulation of abnormal metabolites becomes overt in form of severe spondylosis, peripheral arthropathy, tendon rupture, bone osteoporosis as well as aortic valve stenosis and skin pigmentation. The features of the disease are associated with affinity of homogentisic acid to the connective tissue and its effect on collagen structure. Only symptomatic treatment is applied in case of alkaptonuria and ochronosis.
Authors:
Anida Grosicka; Eugeniusz J?zef Kucharz
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Wiadomo?ci lekarskie (Warsaw, Poland : 1960)     Volume:  62     ISSN:  0043-5147     ISO Abbreviation:  Wiad. Lek.     Publication Date:  2009  
Date Detail:
Created Date:  2010-03-16     Completed Date:  2010-04-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9705467     Medline TA:  Wiad Lek     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  197-203     Citation Subset:  IM    
Affiliation:
Klinika Chor?b Wewnetrznych i Reumatologii, Samodzielny Publiczny Szpital Kliniczny Nr 7 SUM w Katowicach. anida.grosicka@wp.pl
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MeSH Terms
Descriptor/Qualifier:
Adult
Alkaptonuria / complications,  diagnosis*,  genetics,  metabolism,  pathology,  therapy
Cartilage / pathology
Child
Disease Progression
Humans
Islets of Langerhans / pathology
Joint Diseases / etiology
Kidney Tubules / pathology
Skin / pathology
Spondylosis / etiology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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