chapter  15
20 Pages

Molecular Diseases of the Blood and Blood-Forming Tissues

ByAntoni Horst

The metabolic pathways in erythrocytes are practically limited to glucose metabolism without any possibility of replacing the disturbed metabolic reactions by another metabolic reaction. The Glucose-6-Phosphate Dehydrogenase activity is important to the hexose monophosphate pathway in glucose metabolism, which supplies the reduced nucleotides necessary to preserve the structure of the erythrocytes against oxidative processes. 6-Phosphogluconate is often regarded as a product of the glucose-6-phosphate dehydrogenase reaction. The second most frequent enzyme deficiencies that cause hemolytic anemia are pyruvate kinase deficiency. Hexokinase Deficiency catalyzes the first step of the Embden-Meyerhof pathway of glucose metabolism. Glucose Phosphate Isomerase catalyzes the interconversion of fructose-6-phosphate and glucose-6-phosphate. Phosphofructokinase catalyzes irreversible conversion of fructose-6-phosphate into fructose-1,6-diphosphate using adenosine triphosphate (ATP) which becomes converted to ADP. The primary function of alpha1-antitrypsin, produced by the liver, is the inhibition of neutrophil elastase, a protease capable of hydrolyzing connective tissue components.