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Molecular screening for glucose-6-phosphate (G6PD) mutations in two Jordanian populations revealed six different mutations and higher incidences of G6PD deficiency and G6PD A- (376A-->G + 202G-->A) mutation in Jordan Valley than in the Amman area. These observations may be explained by historically higher rates of malaria and African ancestral origins, respectively.
Prior to the development of the DNA-based technology reliable prenatal diagnosis of G6PD deficiency was not possible. We show that, using PCR amplification and restriction endonuclease digestion, prenatal diagnosis is possible. We have now been able to determine that the male fetus of a mother heterozygous for G6PD Mediterranean had inherited the maternal X chromosome with the normal G6PD gene.
After screening 3,300 dogs, one animal with a mild deficiency of erythrocyte G6PD was detected. Although it had several clinical problems for 2 months, no abnormality could be directly attributable to the reduced enzymatic activity. Biochemically the mutant was electrophoretically slower but within the normal range for Km-G6P, Km-NADP, use of 2-dG6P and deamino NADP, pH optimum, and heat stability.
The effect of phenobarbital (PB) treatment on erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) levels was studied in normal and G-6-PD-deficient human newborns. An increase of erythrocyte G-6-PD levels was observed in normal G-6-PD patients, while increase in the enzymatic activity was not observed in G-6-PD-deficient neonates.
In a Portuguese boy with favism G-6PD deficiency was found. Deficiency was due to a G-6PD variant close or identical to Canton-type G-6PD. The muted protein had a lowered catalytic activity and furthermore, was unstable. The post-translational modifications undergone by this deficient G-6PD variant are described.
500 blood donors were screened for G6PD deeiciency using micromethaemoglobin reduction (microMRT) test. Most of the blood donors were young adult males (95.8%). The overall incidence of G6PD deficiency was found to be 0.8%. There, was apparently decreased frequency of G6PD deficient blood donors with increasing age, and no relation could be ascertained between G6PD) deficiency and blood groups.
We report 17 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency with drug-induced haemolytic anaemia. In most cases the drug involved was an antimalarial. However, we also found two cases in which other drugs could have been responsible for the haemolysis. The degree of severity of haemolysis differed in the individuals and most required multiple transfusions.
Preparations of erythrocyte glucose-6-phosphate dehydrogenase from normal individuals show similar degrees of inhibition by neutral salts. Preparations from Caucasian subjects with different hereditary deficiency syndromes differ from each other and from normal subjects, indicating a qualitative difference in these specific "deficient" enzymes. Sensitivity to neutral salts may be a means of detecting an amino acid substitution.
A combined system for measuring glutathione stability, hexose monophosphate pathway activity, glutathione synthesis, glucose consumption and lactate formation in erythrocytes has been devised. By this method the results were obtained from the blood samples of six glucose 6-phosphate dehydrogenase deficiencies, one glucose phosphate isomerase deficiency and two pyruvate kinase deficiencies. These results indicate that one abnormal enzyme may exert its influence on the other several enzyme systems and that it is valuable to investigate the metabolism of erythrocytes using this system in different erythroenzymopathies as well as different variants of one enzyme deficiency.
G6PD activity in erythrocytes was examined in 129 people with malignant neoplasms (83 males, 46 females). In all these subjects G6PD activity in erythrocytes was markedly higher than in the controls. Tumour surgery resulted in decreased activity of that enzyme in the erythrocytes. The controls were 53 healthy persons (38 males, 15 females) not exposed occupationally to carcinogens.
Different methods for the quantitative determination of glucose-6-phosphate dehydrogenase (G-6-PD) were compared and one of them found to be highly precise. Maleimide inactivation of 6-phosphogluconate dehydrogenase (PGD) was investigated. It was shown that this inactivation is time-dependent and causes loss of assay precision. The most precise method was adapted to lysates of red blood cells from females, known to be heterozygote for G-6-PD deficiency and from non-deficient males and females. Heterozygote gene carriers were detected at a rate of 97.0%.
Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their analogues and are not associated with chronic hemolytic disease. Probably, all 4 variants arise from two ancestral mutations.
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Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.
Three male members of an English family with chronic haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency are reported. The disease was symptomless in one adult, but crises, caused either by increased haemolysis or failure of marrow compensation, occurred in two children. They were typically precipitated by trivial infection. Two normal female members of the family were obligatory heterozygotes. A hitherto undescribed ;slow' variant of the enzyme was identified electrophoretically.
Four new G6PD variants have been characterized in individuals from Papua New Guinea. This study demonstrates that the previously reported Markham variant and the newly characterized Salata variant may be widely distributed in Papua New Guinea. Th data presented here together with those of previously published studies demonstrate a degree of heterogeneity of G6PD deficiency that is much higher than that in other regions of the world where G6PD deficiency is common.
The relationship between renal metabolism and urinary acidification is poorly understood. During the past decade evidence has accrued to suggest that the hexose monophosphate (HMP) shunt might serve in the process of urinary acidification by providing reducing equivalents for a redox-coupled membrane-bound proton pump that could transport protons into the tubular lumen. The major support for this hypothesis has come from the finding that HMP shunt activity increases with acute and chronic metabolic acidosis. In the present study, we examine the urinary acidification capacity of a young man with severe erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and with unmeasurable G-6-PD activity in renal cortical tissue. We found that despite unmeasurable G-6-PD activity in renal tissue, the patient was capable of generating a maximally acid urine and increasing total acid secretion. Our findings suggest that the HMP shunt may not be necessary for the urinary acidification process.
Several variants of G6PD were found in different regions of Saudi Arabia. The variants were separated on the basis of their electrophoretic mobility and activity towards glucose-6-phosphate. G6PD*B was the most common enzyme found in all regions investigated. Variants included G6PD*A, G6PD*A-, G6PD*B weak and G6PD*def. The frequency of the variants shows significant differences among the regions of Saudi Arabia examined.