Congenital erythrocyte enzyme deficiencies.
Congenital hemolytic anemias resulting from PK, PFK, and G6PD enzyme deficiencies have been reported in domestic animals. Dogs with PFK deficiency may have episodes of intravascular hemolysis with hemoglobinuria in addition to a persistent compensated hemolytic anemia. Patients with mild G6PD deficiency are not anemic but may show increased susceptibility to oxidant-induced erythrocyte injury. Persistent methemoglobinemia has been reported in dogs and cats with methemoglobin reductase enzyme deficiency. Affected animals have cyanotic-appearing mucous membranes but show no or only mild clinical signs attributable to hypoxemia. Enzyme assays are usually done after acquired causes of hemolytic anemia and methemoglobinemia have been ruled out.
Harvey
J W
JW
Department of Physiological Sciences, College of Veterinary Medicine, University of Florida, Gainesville, USA.
D000818:Animals; D002371:Cat Diseases / Q000097:blood* / Q000151:congenital* / Q000175:diagnosis; D002415:Cats; D042966:Cytochrome-B(5) Reductase / Q000032:analysis / Q000172:deficiency; D003937:Diagnosis, Differential; D004283:Dog Diseases / Q000097:blood* / Q000151:congenital* / Q000175:diagnosis; D004285:Dogs; D004912:Erythrocytes / Q000201:enzymology*; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000175:diagnosis / Q000662:veterinary; D006402:Hematologic Diseases / Q000151:congenital / Q000201:enzymology / Q000662:veterinary*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000662:veterinary*; D010732:Phosphofructokinase-1 / Q000032:analysis / Q000172:deficiency; D011770:Pyruvate Kinase / Q000032:analysis / Q000172:deficiency
D005954:Glucosephosphate Dehydrogenase; D042966:Cytochrome-B(5) Reductase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase