Pyruvate kinase deficiency.
نویسندگان
چکیده
منابع مشابه
Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)
Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...
متن کاملErythrocyte pyruvate kinase deficiency among anemic individuals in Bandar Abbas, Iran
Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...
متن کاملProbing Conformational Feature of a Recombinant Pyruvate Kinase by Limited Proteolysis
Pyruvate kinase is a key enzyme in glycolytic pathway that catalyzes the transphosphorylation between phosphoenolpyruvate and ADP to yield ATP and Pyruvate. Geobacillus stearothermophillus has a stable pyruvate kinase with determined crystal structure that composed of four separate domains. Given that limited proteolysis experiments can be successfully used to probe conformational features of p...
متن کاملA series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.
I T HAS BECOME increasingly apparent that many forms of hemolytic disease are due to hereditary enzyme deficiencies affecting the erythrocytes. The drug-induced hemolytic anemias may be due to glucose-fl-phosphate dehydrogenase (G-6-PD ) deficiency, glutathione reductase (GSSG-R) deficiency, or to a deficiency in reduced glutathione (GSFI ). Nonspherocytic congenital hemolytic anemia may be due...
متن کاملNeutrophil pyruvate kinase deficiency with recurrent staphylococcal infections: first reported case.
A woman with an intracellular killing defect in the neutrophils had neutrophil pyruvate kinase deficiency. She had had recurrent staphylococcal infections throughout her life. The enzyme present was unstable and its kinetics were abnormal.
متن کاملFetal anaemia due to pyruvate kinase deficiency.
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this diso...
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ورودعنوان ژورنال:
- Nederlands tijdschrift voor geneeskunde
دوره 111 14 شماره
صفحات -
تاریخ انتشار 1967