ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...

the overall incidence of glucose-6-phosphate dehydrogenase (g6pd) deficiency in iranian population is estimated around 10%-14.9% . g6pd deficiency is an x-linked disorder and 80% of donors are usually male. at present, donors’ blood is not routinely screened for g6pd deficiency in iran blood bank where for detecting such enzyme deficiency, reliance is placed on pre-donation data. thus, the g6pd...

Abstract Background About 7.5% of the world population carries one or two deficient copy of glucose-6-phosphate dehydrogenase (G6PD) genes. According to WHO, its prevalence in Iran is 10 to 14.9%. This study aimed on determination of frequency of G6PD deficiency in neonates with jaundice who were hospitalized during 6 months (September 2008 to February 2009) in the city of Yazd, Iran. Materi...

objective(s): particularly in developing countries, selenium and/or iodine deficiencies are encountered and use of pesticides in agriculture are not well-controlled. fenvalerate is a pyrethroid insectide used in agriculture and has applications against a wide range of pests. this study was designed to evaluate the effects of fenvalerate on hepatic and cerebral xenobiotic metabolizing enzyme act...

background: one of the most important enzymatic disorders that interact with malaria is deficiency of g6pd (gloucose-6-phosphate dehydrogenase). this enzyme protects red blood cells from hydrogen peroxide and other oxidative damages. distribution of this enzyme deficiency usually accompanies with low level distribution of malaria disease in most malarious areas. so this hypothesis may be consid...

Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is a common enzyme deficiency in the world. It's Prevalence inIranis about 12% in male & about 1% in female. The present study did examine the relation between the development of preeclampsia and G6PD deficiency. It was investigated whether or not the risk of preeclampsia in G6PD deficient women is higher than that in normal pregnant women.A t...

introduction: mucopolysaccharidosis i (mps-i) is an autosomal recessive lysosomal storage diseases, caused by α-l-iduronidase (idua) enzyme deficiency. the clinical manifestations of mps-i patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. from when idua gene has been cloned more than 109 distinct mutations have been identified in it an...

Abstract: Congenital enteropeptidase deficiency (CEP), also known as enterokinase deficiency. CEP is an uncommon autosomal recessive genetic disorder mostly characterized by severe chronic diarrhoea after delivery, hypoproteinemia, and failure to grow. Enteropeptidase activity anticipated play a significant role in protein digestion. For growth appropriate development newborns with congenital l...