Identification of alkaptonuria patients in the Southern region of Alkarak governorate
Other Title(s)
دراسة حالات لمرضى الكبتونيوريا (التبول الأسود) في جنوب محافظة الكرك
Dissertant
Thesis advisor
al-Sudua, Muhammad Salim
al-Tarawinah, Khalid Ahmad
Comitee Members
al-Shakhanbah, Jumah Muti Muhammad
al-Zirini, Wail Ali Hasan
al-Zubi, Hamid Mahmud
University
Mutah University
Faculty
Faculty of Science
Department
Department of Biological Sciences
University Country
Jordan
Degree
Master
Degree Date
2012
English Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGO) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis.
The defect is caused by mutations in the HGO gene, which maps to the human chromosome 3q21–q23.
AKU shows a very low prevalence (1:100,000–250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000.This work was conducted to identify patients with AKU in the south region of Alkarak Governorate.
Eight hundred and fifty urine samples were collected randomly from Governmental schools in Thatrass, Soul and Almazar, health care centers , Mutah university, and the community.
Urine samples were tested by adding 1 drops of Fecl3 to 3 ml urine sample, by the sample was left standing at room temperature for 48-72 hrs ,then observe the urine color turns in cases of positive results to black color due to the presence of HGA.
Screening results for AKU patients in south of alkarak showed no new cases in this region .
Our results suggest that AKU segregates in specific families.
HGA levels in urine were measured in AKU patients, carriers and healthy controls using spectrophotometric .
The range of HGA levels ranged between 0.01 mg/ml - 3.09 mg/ml in AKU patients.
Our results showed that low protein diet and vitamin C reduced the amount of excreted HGA from 15.8% to 88.3%.
Furtherer studies are still needed to find out the long-term effects of low protein diet and vitamine C on the level of HGA, sign and symptom, and complications of AKU patients.
Main Subjects
No. of Pages
35
Table of Contents
Table of contents.
Abstract.
Abstract in Arabic.
Chapter One : Theoretical background.
Chapter Two : Literature review.
Chapter Three : Design and methodology.
Chapter Four : Results and discussion.
References.
American Psychological Association (APA)
al-Nawayisah, Inas Tahsin Ali. (2012). Identification of alkaptonuria patients in the Southern region of Alkarak governorate. (Master's theses Theses and Dissertations Master). Mutah University, Jordan
https://search.emarefa.net/detail/BIM-786173
Modern Language Association (MLA)
al-Nawayisah, Inas Tahsin Ali. Identification of alkaptonuria patients in the Southern region of Alkarak governorate. (Master's theses Theses and Dissertations Master). Mutah University. (2012).
https://search.emarefa.net/detail/BIM-786173
American Medical Association (AMA)
al-Nawayisah, Inas Tahsin Ali. (2012). Identification of alkaptonuria patients in the Southern region of Alkarak governorate. (Master's theses Theses and Dissertations Master). Mutah University, Jordan
https://search.emarefa.net/detail/BIM-786173
Language
English
Data Type
Arab Theses
Record ID
BIM-786173
