| Title |
Nine cases of Alkaptonuria in one family in southern Jordan
|
|---|---|
| Published in |
Rheumatology International, December 2010
|
| DOI | 10.1007/s00296-010-1701-1 |
| Pubmed ID | |
| Authors |
Mohammed Al-sbou, Nesrin Mwafi |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 4 | 19% |
| Researcher | 3 | 14% |
| Student > Bachelor | 2 | 10% |
| Student > Ph. D. Student | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Other | 2 | 10% |
| Unknown | 6 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 38% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
| Agricultural and Biological Sciences | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 6 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 March 2013.
All research outputs
#20,193,180
of 22,710,079 outputs
Outputs from Rheumatology International
#1,966
of 2,173 outputs
Outputs of similar age
#169,515
of 179,836 outputs
Outputs of similar age from Rheumatology International
#19
of 20 outputs
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