AndrewAlexanderSandbox1: Difference between revisions
From Proteopedia
Jump to navigationJump to search
| Line 41: | Line 41: | ||
Pyruvate kinase deficiency is the most frequent enzyme abnormality of glycolysis that causes hemolytic anemia. In cells that lack mitochondria, this deficiency is especially harmful, because these cells must use anaerobic glycolysis as their sole source of energy because the TCA cycle is not available. | Pyruvate kinase deficiency is the most frequent enzyme abnormality of glycolysis that causes hemolytic anemia. In cells that lack mitochondria, this deficiency is especially harmful, because these cells must use anaerobic glycolysis as their sole source of energy because the TCA cycle is not available. | ||
Red blood cells, in a state of pyruvate kinase deficiency, rapidly become deficient in ATP and can undergo hemolysis.This is transmitted as an autosomal recessive trit. The severity of | Red blood cells, in a state of pyruvate kinase deficiency, rapidly become deficient in ATP and can undergo hemolysis.This is transmitted as an autosomal recessive trit. The severity of hemolysis is extremely variable such as a mild case to life-hreatening neonatal anaemia requiring transfusions. Over one hundred eighty different mutations have been discovered in relation to this deficiency with most being autosomal recessive, but a few strands are autosomal dominant. The deficiency causes red blood cells to deform into echinocytes on peripheral blood smears. This causes the buildup of reaction intermediates which can also increase the level of 2,3-bisphosphoglycerate in the cells. This causes a rightward shift in the hemoglobin oxygen saturation curve, which means that there is a decreased oxygen affinity for the hemoglobin and earlier oxygen unloading than under normal conditions | ||
<ref>{{article |author=Zanella, Alberto; Fermoa, Elisa.|title=Pyruvate kinase deficiency: The genotype-phenotype association|volume=21|pages=217-231|}}</ref>. | <ref>{{article |author=Zanella, Alberto; Fermoa, Elisa.|title=Pyruvate kinase deficiency: The genotype-phenotype association|volume=21|pages=217-231|}}</ref>. | ||
