The clinical course and the biochemical findings are reported from a patient suffering from glucosephosphate isomerase (G.P.I EC 5.3.1.9) deficiency type Nijmegen. This disorder decleares itself as a non-spherocytic hemolytic anemia, presenting in the neonatal period. In the patient hemolysis ...
glucose phosphate isomerase、glucose-phosphate isomerase glucose-phosphate isomerase deficiency、glucose phosphate isomerase deficiency Glucose-phosphate kinase glucose phosphate thymidylyltransferase glucose phosphate uridylyltransferase glucose phosphomutase glucose phosphotransferase glucose plus protein tolerance test glu...
An enzyme that catalyzes the interconversion ofd-fructose 6-phosphate andd-glucose 6-phosphate; a part of glycolysis and gluconeogenesis; glucosephosphate isomerase deficiency is an inherited disorder resulting in liver glycogenesis and hemolytic anemia. ...
Most of the metabolic needs of erythrocytes are covered by glycolysis, the oxidative pentose phosphate pathway and the glutathione cycle. Hereditary enzyme deficiencies of all these pathways have been identified, among which glucose-6-phosphate isomerase (GPI) deficiency is the second most frequent eryt...
Five unrelated patients with hereditary glucosephosphate isomerase (GPI) deficiency resulting in nonspherocytic hemolytic anemia were studied. Three new mutations were found in the coding region of the GPI gene: two patients were heterozygous for 223 A→G (R75G) and 898 G→C(R300P), respectivel...
L.: Red cell glucosephosphate isomerase deficiency: Clinical and laboratory evidence of increased blood viscosity. Pediatric Research 8 , 398 (1974)Chilcote, R. R., and Baehner, R. L., Red cell (RBC) glucose phosphate isomerase deficiency (GPI): Clinical and laboratory evidence of increased ...
A NEW VARIANT OF GLUCOSEPHOSPHATE ISOMERASE (GPI) DEFICIENCY WITH CONGENITAL HEMOLYTIC ANEMIAPediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model...
The hemolytic anemia was subsequently shown to be due to glucose phosphate isomerase deficiency and was clinically ameliorated by splenectomy at the age of three years.关键词: Humans Fetal Diseases Edema Anemia, Hemolytic, Congenital Glucose-6-Phosphate Isomerase Exchange Transfusion, Whole Blood ...
Glucose 6-phosphate deficiency (glycogen storage disease [GSD] type 1) is a combined defect of gluconeogenesis and glycogenolysis, because this enzyme is the common final step of both processes. From:Pediatric Critical Care (Fourth Edition),2011 ...
Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI). deficiency--a new enzyme defect of human erythrocytes . Blood 32 , 236 – 249 .Baughan MA, Valentine WN, Paglia DE, Ways PO, Simons ER, DeMarsh QB (1968) Hereditary hemolytic anemia associated with glucose phosphate ...