title: Hemolytic anemias and erythrocyte enzymopathies.
abstract: The human erythrocyte generates high-energy adenosine triphosphate by anaerobic glycolysis and cycles oxidized and reduced nicotinamide adenine dinucleotide phosphate by the aerobic pentose phosphate shunt pathway. Certain enzymopathies of the pentose phosphate shunt are associated with hemolysis resulting from oxidative denaturation of hemoglobin. Glucose-6-phosphate dehydrogenase deficiency, an X-chromosome-linked disorder, is the prototype of these diseases and is genetically and clinically polymorphic. Six enzymopathies of anaerobic glycolysis cause hemolytic anemia; lactate dehydrogenase deficiency does not. In 2,3-diphosphoglycerate mutase deficiency, 2,3-diphosphoglycerate is greatly reduced and asymptomatic polycythemia is noted. Pyrimidine-5'-nucleotidase deficiency, an enzymopathy of nucleotide metabolism, is characterized by intracellular accumulations of pyrimidine-containing nucleotides, marked basophilic stippling on the stained blood film, splenomegaly, and hemolysis. Lead inhibits the nucleotidase and an identical syndrome occurs during severe lead poisoning. Hemolysis also accompanies an unusual enzymopathy characterized by a 40- to 70-fold increase (not decrease) in adenosine deaminase activity.
authors.forename: W N
authors.initials: WN
authors.lastname: Valentine
authors.forename: K R
authors.initials: KR
authors.lastname: Tanaka
authors.forename: D E
authors.initials: DE
authors.lastname: Paglia
mesh_terms: D015720:5'-Nucleotidase; D000243:Adenosine Deaminase / Q000172:deficiency; D000263:Adenylate Kinase / Q000172:deficiency; D000743:Anemia, Hemolytic / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D001731:Bisphosphoglycerate Mutase / Q000172:deficiency; D004912:Erythrocytes / Q000201:enzymology*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood; D006019:Glycolysis; D006593:Hexokinase / Q000172:deficiency; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency; D009708:Nucleotidases / Q000172:deficiency; D009711:Nucleotides / Q000378:metabolism; D010427:Pentose Phosphate Pathway; D010732:Phosphofructokinase-1 / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency; D011770:Pyruvate Kinase / Q000172:deficiency; D014305:Triose-Phosphate Isomerase / Q000172:deficiency
chemical_list: D009711:Nucleotides; C019794:bisphosphoglycerate phosphatase; D007770:L-Lactate Dehydrogenase; D006593:Hexokinase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase; D000263:Adenylate Kinase; D009708:Nucleotidases; D010744:Phosphoric Monoester Hydrolases; D015720:5'-Nucleotidase; D000243:Adenosine Deaminase; D005634:Fructose-Bisphosphate Aldolase; D014305:Triose-Phosphate Isomerase; D001731:Bisphosphoglycerate Mutase