Click for new scientific resources and news about Corona[COVID-19]

Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   SEPTEMBER 2014 , Volume 17 , Number 9; Page(s) 629 To 632.
 
Paper: 

MOLECULAR DETERMINATION OF GLUTARIC ACIDURIA TYPE I IN INDIVIDUALS FROM SOUTHWEST IRAN

 
DOI: 

0141709/AIM.009

 
Author(s):  BARADARAN MASUMEH, GALEHDARI HAMID*, AMINZADEH MAJID, AZIZI MALMIRI REZA, TANGESTANI RAHELEH, KARIMI ZAHRA
 
* DEPARTMENT OF GENETICS, SHAHID CHAMRAN UNIVERSITY, AHVAZ, IRAN
 
Abstract: 

BACKGROUND: Glutaric Aciduria type 1 (GA1) is a metabolic inborn error and is characterized by increasing excursion of glutaric acid and its derivates, presented in microcephaly and dystonia. The disease is resulted from mutational inactivation in the GCDH gene encoding the glutaryl-CoA dehydrogenase. The defective enzyme causes the accumulation of an excessive level of intermediate breakdown products that leads to the brain damage. In spite of the clinical features, diagnosis of GAI has been often confusing, because of variability in the clinical manifestations of patients. Early diagnosis and treatment can though prevent irreversible disease progression and consequent brain damage; otherwise the affected individuals will die in their first decade of lives.
METHODS: The GCDH gene was also analyzed to (detect or identify) disease causing mutations using gene amplification and direct sequencing in 18 patients.
RESULTS: Among 18 patients, 10 patients (55.5%) were homozygous or compounded heterozygous for the recurrent mutation E181Q, three patients (16.7%) were homozygous for the known mutation R402Q and one patient (5.6%) was compound heterozygous for S255L. All three detected missense mutations are pathogenic, which cause structural changes in the binding site and tetramerization or functional deficiency. Four other individuals (22.2%) with a preliminary diagnosis of GAI were negative for any pathogenic mutations.
CONCLUSION: Most GA1 affected persons in southwest Iran are with Persian ethnicity and the most common mutation in Khuzestan Province is prominent in comparison to previous reports from Iran.

 
Keyword(s): GCDH GENE, GLUTARIC ACIDURIA TYPE 1, METABOLIC DISEASE, SOUTHWEST IRAN
 
References: 
  • ندارد
 
  pdf-File tarjomyar Yearly Visit 81
 
Latest on Blog
Enter SID Blog