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At least 1,081 records · Page 60Linked to original sources
PubMed1975

Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice.

Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from Sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.

Electrophoresis, Starch Gel↗
PubMed1975

Haemolysis complicating viral hepatitis in patients with glucose-6-phosphate dehydrogenase deficiency.

Out of 20 patients with viral hepatitis whose glucose-6-phosphate dehydrogenase (G-6-PD) levels were normal, 14 had clinical evidence of a mild to moderate degree of haemolysis but in all the patients studied the half life of chromium-51-labelled red cells was shortened. Out of 18 viral hepatitis patients deficient in G-6-PD 17 had clinical evidence of haemolysis, and in eight this was more severe than in the group with normal G-6-PD values. Massive intravascular haemolysis occurred in four, three of whom died. The massive haemolysis was attributed to the presence of additional drug-induced oxidative stress to the G-6-PD-deficient red cells.

Alanine Transaminase↗
PubMed1977

Three glucose 6-phosphate dehydrogenase variants found in Japan.

Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased heat stability and slightly biphasic pH curve. G6PD 'Ogori' had markedly decreased activity, but otherwise normal characteristics. G6PD 'Hofu' had moderately decreased activity, normal electrophoretic mobility, slightly reduced Km G6P, normal Km NADP, normal utilization of 2-deoxy-G6P and Gal-6P, but increased utilization of deamino-NADP and normal heat stability as well as normal pH curve.

Adolescent↗
PubMed1990

Erythrocyte glucose-6-phosphate dehydrogenase (1.1.1.49) deficiency in Antalya province, Turkey: an epidemiologic and biochemical study.

Glucose-6-phosphate dehydrogenase (1.1.1.49) activity was assessed in 1986-1988 in blood samples from 1,521 individuals from 375 families living an Antalya city and adjacent villages by Beutler's fluorescence spot test. The families were randomly selected by the State Statistical Institute. Complete deficiency occurred in 7.4% of males and 1.8% of females. Mean enzyme activity was 6.77 +/- 1.07 IU/g Hb in normals and ranged between 0 and 0.48 IU/g Hb in those considered deficient. Kinetic measurements made with partially purified enzyme showed that GdB+ and GdB- variants were present in normal and in deficient subjects, respectively.

Adolescent↗
PubMed1981

Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in RBCs was found significantly more frequently in 210 male cataractous patients than in 672 control subjects of Sardinian origin. The frequency of the deficiency was increasingly higher in presenile cataracts. In the G6PD-deficient group, the incidence of cortical and total cataracts was also increased. It is suggested that decrease of the G6PD activity in the lens, which accompanies its deficiency in the erythrocyte, might play a role in the cataracto-genesis of these patients. Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC.

Adult↗
PubMed1987

Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency in Basrah.

In a study on a group of 186 newborn babies presenting with jaundice, erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency was detected in 95 (51%) of the patients. The incidence of severe hyperbilirubinaemia appeared to be much greater in G6PD-deficient infants (46%) than in infants who did not have the red cell defect (15%). No change was found in this association when ABO incompatibility was excluded. Phototherapy did not reduce the need for exchange transfusion, which was necessary in 27 babies. Eight babies developed kernicterus and one died. Early detection of G6PD deficiency and close surveillance of the affected newborns may be important in reducing the risk of severe neonatal jaundice and kernicterus associated with G6PD deficiency in Basrah.

Bilirubin↗
PubMed1985

Glucose-6-phosphate dehydrogenase Beaumont: a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia.

Studies were carried out on erythrocytes and fibroblasts from a 3-year-old white male with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia. Red blood cell G6PD activity was less than 0.02% of normal values. Since the child's fibroblasts had 2-4% of normal enzymic activity, they were utilized as a source of enzyme for kinetic studies. The G6PD demonstrated marked heat lability, a normal Km value for glucose-6-phosphate (56 mumol/l), a nearly normal pH-activity curve, and increased utilization of 2-deoxyglucose-6-phosphate (76% of the rate with glucose-6-phosphate). These studies clearly indicate that this is a new molecular variant (G6PD Beaumont).

Adult↗
PubMed1994

The use of primaquine in malaria infected patients with red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency in Myanmar.

32 subjects with Plasmodium falciparum gametocytes, and 31 cases with Plasmodium vivax infection from two military hospitals (Lashio, Mandalay) were treated with quinine 600 mg three times a day for 7 days followed by primaquine 45 mg single dose for gametocytes and 45 mg weekly x 8 weeks for vivax malaria. Although screening of red cell glucose-6-phosphate dehydrogenase (G6PD) was done prior to primaquine treatment, G6PD deficient subjects were not excluded from the trial. 20 patients hemizygous for mild G6PD deficiency (GdB- variant), 2 patients hemizygous for severe deficiency (Gd-Myanmar variant) completed the trial. No case of acute hemolysis was observed in all 22 patients with two genotypes of red cell G6PD deficiency status. Therefore, a single dose of primaquine 45 mg and/or weekly for 8 weeks is adequate for the treatment of patients with P. falciparum gametocytes and/or P. vivax malaria ignoring these red cell G6PD enzyme deficient variants in Myanmar.

Developing Countries↗
PubMed1986

Kinetic analysis in single, intact cells by microspectrophotometry: evidence for two populations of erythrocytes in an individual heterozygous for glucose-6-phosphate dehydrogenase deficiency.

A microspectrophotometric technique was used to measure the kinetics of methemoglobin reduction in intact, unaltered human erythrocytes. Reduction was catalyzed by endogenous NADPH-methemoglobin reductase in the presence of Nile Blue. The technique was applied to the study of erythrocytes from a female donor with decreased glucose-6-phosphate dehydrogenase (G-6-PD) activity. The individual was shown to be heterozygous for deficiency of G-6-PD. The kinetic study revealed two distinct populations of erythrocytes that were nearly equal in number. One cell population showed reduction rates between 0 and 25% of normal, whereas the second cell population displayed rates within the range seen for normal cells. Single-cell indices of cell size, cell hemoglobin content, and ratio of cell hemoglobin to cell size did not correlate with single-cell reduction rates and were not significantly different between the two populations. These results provide quantitative support for the X-inactivation hypothesis in G-6-PD deficiency.

Adult↗
PubMed1990

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.

A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

Anemia, Hemolytic, Congenital↗
PubMed1996

Enhanced vesiculation exacerbates complement-dependent hemolysis in glucose-6-phosphate dehydrogenase deficient red blood cells.

Glucose-6-phosphate dehydrogenase (G6PD) deficient red blood cells (RBCs) are known to be more susceptible to oxidant-induced hemolysis. Erythrocytes from G6PD-deficient individuals are significantly more susceptible to Ca(2+)-induced vesiculation than normal control cells. The enhanced susceptibility of G6PD-deficient RBCs to Ca(2+)-induced vesiculation is not due to ATP depletion. The remnant G6PD-deficient RBCs following vesiculation are more sensitive to complement-mediated hemolysis than control normal RBCs. A strong positive correlation exists between the level of Ca(2+)-induced vesiculation and the extent of complement mediated hemolysis.

Calcium↗
PubMed1997

Interplay between glutathione-S-transferase and glucose-6-phosphate dehydrogenase in neonatal cord blood.

Three hundred neonatal cord blood samples were collected from two major cities in Jordan and assayed for glutathione-S-transferase (GST), glutathione, and glucose-6-phosphate dehydrogenase (G6PD). A significant positive correlation between the levels of G6PD and GST activities was detected. When the G6PD activity decreased, the GST activity declined. A similar concurrent decrease in the concentration of reduced glutathione was also observed. When the samples were divided into males and female samples, some significant variations in the levels of the two enzymes were observed. Female samples exhibited higher G6PD and GST activities as compared with male samples. Moreover, the incidence of severe and moderate G6PD deficiencies was higher in male as compared with female samples. Analyses of the samples for total bilirubin, red blood cells, hematocrit, and hemoglobin were also performed, and slight nonsignificant variations were noted.

Bilirubin↗
PubMed1993

Muscle glucose-6-phosphate dehydrogenase deficiency: restoration of enzymatic activity in hybrid myotubes.

A high level of glucose-6-phosphate dehydrogenase (G6PD) activity was observed in myoblasts and myotubes from normal human and mouse cell cultures. However, only a residual amount of activity was observed in myoblasts and myotubes obtained from G6PD-deficient patients (G6PD Mediterranean). Hybrids were formed by the fusion of normal (from human and mouse) and G6PD-deficient myoblasts (from the patients). These hybrids contained a high level of G6PD activity. Hoechst staining permitted to confirm that the enzymatic activity was not restrained to a domain near the competent nuclei. These results suggest that myoblast transplantation could be used to restore normal enzymatic activity in metabolic myopathies.

Adult↗
PubMed2002

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran.

We report the first investigation of glucose- 6-phosphate dehydrogenase (G6PD) deficiency among the Mazandaranians in the north of Iran. We analysed the G6PD gene in 74 unrelated G6PD-deficient men with a history of favism. Molecular analysis revealed three major different polymorphic variants: G6PD Mediterranean 66.2% (49 out of 74), G6PD Chatham 27% (20 out of 74), G6PD Cosenza 6.75% (5 out of 74). These findings indicated a higher prevalence of G6PD Chatham in this Iranian population than anywhere else in the world. In addition, the distribution of these G6PD variants is more similar to that found in an Italian population than in other Middle Eastern countries.

Child↗
PubMed1998

[Glucose-6-phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood spots].

OBJECTIVE: To analyze G6PD gene mutation in 168 Cantonese G6PD deficient male infants. METHODS: PCR products were amplified directly from dried blood spots on filter paper using 7 pairs of special primers followed by digestion with a restriction enzyme. RESULTS: Of the 168 samples, 72(42.8%) were G6PD 1376 G-->T mutation, 35 (20.8%) were G6PD 1388 G-->A, 30(17.9%) were G6PD 95 AG, 6(3.6%) were G6PD 392 G-->T, and 3(1.8%) were G6PD 1024 C-->T. No G6PD 493 A-->G and 487 G-->A mutation were found, and 22(13.1%) were not defined. CONCLUSION: 1. The three G6PD mutations at 1376, 1388 and 95 were common in Cantonese. 2. Dried blood spots collected on filter paper provide an easy way of sample collection, storage and transport for the epidemiological study of inherited disease.

Adult↗
PubMed1995

New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

We have identified the glucose-6-phosphate dehydrogenase mutations responsible for enzyme deficiency in nine individuals with chronic nonspherocytic hemolytic anemia. We found the variants Tokyo, Iowa, Shinshu, and Guadalajara in British subjects and Kobe in an Italian. In addition we have determined the variant Corum has the mutation 820 G-->A and have found in British subjects the mis-sense mutations 224 T-->C, 488 G-->A and 833 C-->T which have not been described before. Some, but not all, of the mutations involve amino acids located near putative substrate binding sites.

Anemia, Hemolytic↗
PubMed2004

Investigation of glucose 6-phosphate dehydrogenase (G6PD) kinetics for normal and G6PD-deficient persons and the effects of some drugs.

In the present study, blood samples from 1183 children aged 0.5-6 years were taken. Three children were found with G6PD deficiency by examining the enzyme activity and hemoglobin ratio. Some kinetic properties of glucose 6-phosphate dehydrogenase enzyme (G6PD) were studied after the purification of the enzyme with ammonium fractionation, dialysis and 2',5' ADP-Sepharose 4B affinity chromatography from a healthy person and from three G6PD-deficient people. The purity of the enzymes was confirmed by SDS-PAGE electrophoresis. The effects of some drugs which are known inhibitors of G6PD activity were studied. Some of the drugs stimulated the activity of the enzyme in two of the three cases with G6PD deficiency. KM values, Vmax values for G6P and NADP+, optimum pH and optimum temperature for the enzyme from the healthy person and the three G6PD-defficient people are reported.

Child↗