Defective molecular variants of glucose-6-phosphate dehydrogenase and methaemoglobin reductase

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Defective molecular variants of glucose-6-phosphate dehydrogenase and methaemoglobin reductase.

Unlike any other living cell, the mature erythrocyte is unable to divide and synthesize proteins. It must therefore sustain a relatively long life (about 100 days) without renewing its stock of enzymes. If this stock is genetically altered the red cell will be more likely than any other to suffer. Also the metabolic pathways are greatly simplified in the red cell as its essential metabolites ar...

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Molecular Surveying of the Common Variants of Glucose 6-Phosphate Dehydrogenase Gene in Deficient Patients

Glucose 6-phoshphate dehydrogenase is X-chromosome linked that expressed in all tissues. This is the first enzyme of pentose phosphate pathway were 5-carbon sugar Ribose and NADPH were synthesized by coupled oxidation /reduction reactions and this enzyme is a highly polymorphic enzyme in humans. G6PD deficiency are shown to be the cause of haemolytic effect of Fava beans and primaquine. It soon...

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Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia

Background: Jaundice is affecting over 60-80 percent of neonates in the first week of life. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is an important cause of pathologic hyperbilirubinemia, can lead to hemolytic anemia, jaundice and kernicterus. The present study was performed to determine the prevalence of G6PD deficiency among icteric neonates in Shirvan, Iran. Methods: This...

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Genetic Variants of Human Erythrocyte Glucose-6-phosphate Dehydrogenase

The values of V,,,,, and K, for the three genetic variants A, B, and Aof erythrocyte glucose-&phosphate dehydrogenase have been determined at 10 different pH values in the range from 5.5 to 9.5, and at four different temperatures in the range from 18.5-40.0”. The log V,,,,, versus pH curve for each of the enzymes shows a monotonic increase between pH 5.5 and 7, and a plateau from pH 7.5 upwards...

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Glucose-6-Phosphate Dehydrogenase

Description Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency that mainly affects the red blood cells (RBCs). A defect in G6PD enzyme leads to the destruction of premature RBCs causing hemolytic anemia because the body can not compensate the destroyed RBCs. Thus, the affected individuals show jaundice (paleness, yellowing of the skin and whites of th...

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ژورنال

عنوان ژورنال: Journal of Clinical Pathology

سال: 1974

ISSN: 0021-9746

DOI: 10.1136/jcp.s3-8.1.134