A variant of glucose-6-phosphate-dehyelectrophoretic mobility (B), and utilizadrogenase deficiency associated with tion of substrate analogues 2-deoxy-G6P chronic hereditary hemolytic anemia was and deamino-NADP were normal. The discovered in a 9-yr-old white male. The activity of G6PD in the leukocytes and erythrocytes contained 5% of normal platelets was 15% and 28% of normal enzyme activity,...

An 18 year old male, known case of Type 1 Diabetes Mellitus was admitted in view of diabetic ketoacidosis. With normalization of blood sugars patient developed gross reddish discoloration of urine. Urine routine microscopy did not reveal RBCs or RBC casts. Peripheral blood smear revealed bite cells, Heinz bodies and spherocytes. Thus a diagnosis of hemolytic anemia with hemoglobinuria was made....

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) is important in the control of oxidant stress in erythrocytes, the host cells for Plasmodium falciparum. Mutations in this enzyme produce X-linked deficiency states associated with protection against malaria, notably in Africa where the A- form of G6PD deficiency is widespread. Some reports have proposed that heterozygous females with mosaic p...

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...

T HE MEDITERRANEAN variety of glucose-6phosphate dehydrogenase (G6PD) deficiency is characterized by severely decreased catalytic activity in the affected erythrocytes and is therefore classified as belonging to class II in the usual tabulations of G6PD variants.’ However, evidence has been provided that in Mediterranean countries there are several polymorphic G6PD variants sharing activity lev...

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) catalyses the first committed step in the pentose phosphate pathway; the generation of NADPH by this enzyme is essential for protection against oxidative stress. The human enzyme is in a dimer<-->tetramer equilibrium and its stability is dependent on NADP(+) concentration. G6PD deficiency results from many different point mutations in the X-li...

Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) or fauvism is the most common enzyme deficiency in human, so that 400 million people are living with this disease worldwide. This study aimed to investigate the role of some neonatal factors among newborns suffering from G6PD deficiency and neonatal outcomes associated with this disease. Materials and methods: In this study, two...

It is believed that the tribal people, who constitute 8.6 per cent of the total population (2011 census of India), are the original inhabitants of India. Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an X-linked genetic defect, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity. Deficiency of this enzyme is highly ...

Human glucose 6-phosphate dehydrogenase (G6PD) has a particularly large number of variants resulting from point mutations; some 60 mutations have been sequenced to date. Many variants, some polymorphic, are associated with enzyme deficiency. Certain variants have severe clinical manifestations; for such variants, the mutant enzyme almost always displays a reduced thermal stability. A homology m...

We previously reported the computer model of the human erythrocyte using E-CELL simulation system. The model has three major metabolic pathways including glycolysis, the pentose phosphate pathway, nucleotide metabolism, and ion transport systems. In this work, we modified this simple model, and the second version was used for simulation experiments as follows: (i)Pathological Analyses of Enzyme...