in a survey carried out to establish the incidence of erythrocyte glucose­ 6-phosphate-dehydrogenase deficiency, 738 professional blood donors of tehran were examined. the fluorescent spot technique was used for screening and qualitative determination of g-6-pd in erythrocytes. this technique was compared with other methods of g-6-pd enzyme assay and proved to be very reliable. qualitative enzy...

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most common disease of the hexose monophosphate pathway existing in more than 400 million people worldwide. the aim of this study was to identify neonates with g6pd deficiency following national program for screening and education of affected newborns’ parents started since june 2007 in mazandaran, a northern province of ira...

abstract background: hereditary red cell enzyme disorders are a group of non-immune/spherocytic hemolytic anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. this study evaluated 5 enzymopathies in patients with hereditary non –immune/spherocytic hemolytic anemia (hnsh...

glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most prevalent enzymopathy in mankind. it has sex-linked in­heritance. this enzyme exists in all cells.  g6pd deficiency increases the sensitivity of red blood cells to oxidative dam­age. g6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalar­ial drugs (primaquin). most people w...

glucose-6-phosphate dehydrogenase is an essential enzyme to cell growth. its deficiency of enzyme plays an important role in senescence and death signaling. also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, a...

background and aims: glucose-6-phosphate dehydrogenase (g6pd) is the first enzyme in the route of pentose phosphate metabolism. this route fulfills an effective role in removing oxidant metabolites. deficiency of this enzyme causes decline in energy regeneration of red blood cells and hemolysis. in this study, application of fluorescence staining method in diagnosing the frequency of g6pd defic...

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common disease of the hexose monophosphate pathway existing in more than 400 million people worldwide. The aim of this study was to identify neonates with G6PD deficiency following national program for screening and education of affected newborns’ parents started since June 2007 in Mazandaran, a northern Province of Ira...

Introduction: Various factors are involved in the pathogenesis of acne vulgaris. Recently, G6PD deficiency has been proposed in the pathogenesis of acne. G6PD has an important role in the oxidant/antioxidant balance. According to this theory, antioxidants are used in the treatment of acne recently. The aim of this study was to evaluate G6PD deficiency in patient with acne vulgaris. Methods: The...