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Results for “GLUCOSEPHOSPHATE DEHYDROGENASE”

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At least 91 records · Page 5Linked to original sources
PubMed1975

Gd(--) Abrami: a deficient G-6PD variant with hemizygous expression in blood cells of a woman with primary myelofibrosis.

A new deficient G-6PD variant, Gd(--) Abrami, was found in granulocytes, platelets and red blood cells of a 65-year-old woman with myelofibrosis. Enzyme and immunological titrations showed that only the deficient variant was present in blood cells whereas both the normal and abnormal enzymes were found in the fat cells of this patient. These results seem to indicate that the granulocytes, platelets and erythrocytes of this woman with myelofibrosis have arisen from a single abnormal precursor the functional X chromosome of which is the one carrying the abnormal G-6PD gene.

Adipose Tissue↗
PubMed1975

G-6PD "ankara". a new G-6PD variant with deficiency found in a Turkish family.

A new G-6PD varient with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).

Blood Cells↗
PubMed1980

Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes, with a note on G-6-PD and the malaria hypothesis.

Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geographic co-distribution and interrelationship of G-6-PD deficiency and the occurrence of malaria in South Africa.

Black People↗
PubMed1979

G6PD deficiency with Gd(-)A like variant in a Chinese family from Cambodia.

A low rate value of G6PD was found in red blood cells from a Cambodian boy. Enzyme mapping was performed according to the WHO standard methods. G6PD presented all the characteristics of the A(-) variant encountered in the Negroes and behaved distinct from fast migrating enzymes described in China. No negro was in the ancestry of the mother.

Adult↗
PubMed1977

'Gd(-) Hôtel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from Senegal.

A G-6PD deficiency was detected in a Negro patient from Senegal suffering from congenital nonspherocytic hemolytic anemia. The main characteristics of this variant were: profound defect of G-6PD activity in the red cells, decreased immunologic specific activity, fast electrophoretic mobility, decreased Km-G-6P and normal Km-NADP+, normal inhibition by ATP and NADPH, slightly increased utilization of the substrate analogues, slightly biphasic pH curve, high heat lability, subnormal activation energy. The characteristics of this variant being unique, it was called 'G-6PD Hôtel Dieu.'

Adult↗
PubMed1989

G6PD Avenches and G6PD Moosburg: biochemical and erythrocyte membrane characterization.

Two new G6PD variants with severe enzyme deficiency in Switzerland (G6PD Avenches, G6PD I) and in Germany (G6PD Moosburg, G6PD II) are described. One patient had suffered from severe postpartal hyperbilirubinemia, the other one presented with chronic hemolysis and remittent hyperbilirubinemia. Both variants showed diminished electrophoretic mobility, both variants were heat labile. The Michaelis-Menten constants KM for glucose-6-phosphate and for NADP+ were normal. 2-Desoxy-glucose-6-phosphate was utilized by G6PD I in a higher and by G6PD II at a lower rate than by the normal enzyme. Desamino-NADP+ and galactose-6-phosphate were utilized by both variants at a normal rate. The electrophoretic separation of membrane proteins of G6PD II showed both in the presence and in the absence of 6-mercaptoethanol no difference concerning the formation of membrane protein aggregates between patient and normal control.

Adolescent↗
PubMed1980

G6PD Ciudad de la Habana: a new slow variant with deficiency found in a Cuban family.

A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate that it is a variant that has not been previously described.

Child↗
PubMed1973

G6PD Toronto.

Explore the source record for details and available documents.

Adult↗
PubMed1975

G-6-PD Poznań, variant with severe enzyme deficiency.

A new variant of G-6-PD with severe enzyme dificiency without chronic hemolysis is characterized. The biochemical properties of the variant closely resemble those of the G-6-PD Ramat-Gan described in a case of chronic non-spherocytic hemolytic anemia. As the family data on linking of chronic hemolysis with Ramat-Gan variant are lacking, the differentiation of the variants on the basis of clinical manifestations is not well-founded.

Child, Preschool↗