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Autosomal recessive disease caused by a deficiency in the enzyme glucose phosphate isomerase and clinically characterized by nonspherotic hemolytic anemia and spontaneous hemolytic crises.

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Glucose Phosphate Isomerase Deficiency; Phosphohexose Isomerase Deficiency; Autocrine Motility Factor Deficiency.

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Glucose Phosphate Isomerase deficiency is the third most common enzymopathy (after Glucose-6-Phosphate Dehydrogenase Deficiency and Pyruvate Kinase Deficiency) that results in hemolysis.

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This autosomal dominant disorder (19cen-q12) is most symptomatic in cases presenting homozygous or compound heterozygous pattern.

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The enzyme glucose phosphate isomerase catalyzes the interconversion of the second step of the Embden-Myerhof (glucose metabolism) pathway into fructose-6-phosphate. This enzyme is known as the rate-limiting factor in the mitochondrial energy pathway.

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Patients present with nonspherocytic hemolytic anemia, most often as spontaneously occuring crises. Jaundice, splenomegaly, and cholecystitis are often associated. Muscle weakness is reported. The cardiovascular system is not affected. Neurologically, the presence of mental retardation and mixed sensory and cerebellar ataxia is noted.

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Preoperatively, a complete laboratory assessment should be conducted to confirm the presence of phosphohexose isomerase deficiency (essential to the risk of spontaneous hemolytic crises) and evaluate the level of red cell osmotic fragility. The patient's hematocrit should be obtained. The presence of reduced leukocyte superoxide anion production should raise the concern of infection because of reduced leukocyte bactericidal activity. Patients appear to respond positively to splenectomy.

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Chronic Hexokinase Deficiency Hemolytic Anemia: Autosomal recessive inherited disease characterized by chronic hemolytic anemia associated with severe deficiency of red cell glucose phosphate isomerase. Some cases of autosomal dominant transmission have been reported. Like phosphofructokinase and pyruvate kinase, the hexokinase enzyme is a rate-limiting factor in the metabolism of glucose in the Embden-Meyerhof pathway. Because glycolysis is the only source of energy for the red cells, deficiency in hexokinase results in chronic hemolytic anemia. Few allelic variants have been described of the chronic form. Fukuoka variant: Reported in the Japanese literature as the association of chronic glucose phosphate deficiency and a history of prolonged neonatal jaundice. Iwate variant: Chronic form of hemolytic anemia most often homozygous in pattern and detected early in life. Homburg variant: Association of chronic hemolytic anemia and neurologic deficits.

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Pyruvate Kinase Deficiency (PKD): Blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings include hemolytic anemia, hyperbilirubinemia, splenomegaly, and/or other abnormalities. Inherited as an autosomal recessive genetic trait.

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Triose Phosphate Isomerase Deficiency: Inherited autosomal dominant disease presents with several alleles. Triose phosphate isomerase catalyzes the interconversion of dihydroxyacetone phosphate and glyceraldehyde-3-phosphate (Embden-Meyerhof glycolytic pathway). Clinically, the entity is characterized by moderate hemolytic anemia (nonspherocytic; called Dacie type II), cardiac failure, and sudden cardiac arrest most probably related to dysrhythmias, developmental retardation, severe myopathy and hypotonia, jaundice, splenomegaly, cholelithiasis, and recurrent systemic infection. Patients may have normal intelligence. The spasticity is the result of a neurologic degenerative process involving the lower motor neurons and manifests as pyramidal tract ...

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