Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis.
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چکیده
منابع مشابه
Report of a case of Waldenström macroglobulinemia treated and controlled by radiotherapy.
1. Kahn A, Cottreau D, Boyer C, Marie J, Galand C, Boivin P: Causal mechanisms of multiple acquired red cell enzyme defects in a patient with acquired dyserythropoiesis. Blood 48:653-662, 1976 2. Rochant H, Dreyfus B, Bouguerra M, Tont-Hat H: Hypothesis: Refractory anemias, preleukemic conditions, and fetal erythropoiesis. Blood 39:72l -726, 1972 3. Kahn A, Boivin P. Rubinson H, Cottreau D, Mar...
متن کاملHereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.
I N RECENT YEARS, specffic inborn erythrocyte enzyme deficiencies have l)een implicated in the etiology of certain hereditary hemolytic anemias not characterized by spherocytosis. This report defines still another instance in which hereditary hemolytic anemia has been found to be associated with a deficiency in a specific glycolytic enzyme. The propositus has had a hemolytic syndrome present si...
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Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis. Key words...
متن کاملDetection of glucose-phosphate isomerase deficiency by a screening procedure.
G LUCOSE-PHOSPHATE ISOMERASE (GPI) controls the equilibrium between glucose-6-phosphate (G-6-P) and fructose-6-phosphate (F-6-P). Though G?I does not seem to have a rate-limiting function in red cell glycolysis,’ deficiencies of this enzyme cause hereditary nonspherocytic hemolytic anemia.2 Twelve cases from nine different families have been reported suffering from hemolytic anemia caused by G?...
متن کاملFrequency of thermostability variants: estimation of total "rare" variant frequency in human populations.
Eight erythrocyte enzymes were examined for thermostability in an unselected sample of 100 newborn infants. Three thermolabile variants, one each of lactate dehydrogenase, glucosephosphate isomerase, and glucose-6-phosphate dehydrogenase, were identified, none of which was detectable as a variant by standard electrophoretic techniques. All were inherited. This frequency of 3.8 heritable thermos...
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عنوان ژورنال:
- Blood
دوره 41 5 شماره
صفحات -
تاریخ انتشار 1973