glucose-6-phosphate dehydrogenase (g6pd) is a cytosolic enzyme which its main function is to produce nadph in the red blood cells by controlling the step from glucose-6-phosphate to 6-phospho gluconate in the pentose phosphate pathway. g6pd deficiency is the most common x-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

Neonatal screening for G6PD deficiency has long been established in many countries. The aim of the study was to determine whether the routine semiquantitative fluorescent spot test could detect all cases of G6PD deficiency, including those cases with partial deficiency (residual red cell G6PD activity between 20-60% of normal). We compared the results of G6PD screening by the semiquantitative f...

Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...

Background Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is one of the prevalent disorders in Guilan province, northern Iran, causing many patients to suffer from acute hemolysis. This disease has imposed tremendous costs both on patients and Health systems. The aim of this study was to compare the direct costs of favism treatment on patients and health system with G6PD en...

introduction: normal homeostasis system has several inhibitor mechanisms in front of the amplifier’s natural clotting enzyme to prevent fibrin clots in the vessels. the main inhibitors of coagulation pathway are antithrombin (at), protein c and protein s. patients with hereditary deficiency of coagulation inhibitors are susceptible to venous thromboembolism (vte). one of the major clinical mani...

background glucose-6-phosphate dehydrogenase (g6pd) enzyme deficiency is one of the prevalent disorders in guilan province, northern iran, causing many patients to suffer from acute hemolysis. this disease has imposed tremendous costs both on patients and health systems. the aim of this study was to compare the direct costs of favism treatment on patients and health system with g6pd enzyme scre...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. It is a globally important cause of neonatal jaundice and causes life-threatening hemolytic crisis in childhood. At later ages, certain drugs such as antimalarials, and fava beans cause hemolysis among G6PD deficiency patients. The ...

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its are nervous system and skin manifestations. A 15-month-old patient who was diagnosed Li-Campeau syndrome, also BTD his clinic rapidly improved biotin treatment. With the awareness of different clinical presentations deficiency, patients presenting raising suspicion t...