Document Detail


Nine cases of Alkaptonuria in one family in southern Jordan.
MedLine Citation:
PMID:  21127875     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.
Authors:
Mohammed Al-Sbou; Nesrin Mwafi
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Publication Detail:
Type:  Journal Article     Date:  2010-12-03
Journal Detail:
Title:  Rheumatology international     Volume:  32     ISSN:  1437-160X     ISO Abbreviation:  Rheumatol. Int.     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-03-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8206885     Medline TA:  Rheumatol Int     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  621-5     Citation Subset:  IM    
Affiliation:
Department of Pharmacology, Alkptonuria Research Office, Faculty of Medicine, Mutah University, P.O. Box 7, Mutah, Karak, 61710, Jordan, malsbou@mutah.edu.jo.
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