Progressive Oral Gangrene Probably Due to Lack of Catalase in the Blood (Acatalasæmia)

Hypocatalasemia: A New Genetic Carrier State*

“…In three families (2,12,14) it has been possible to trace the defect for three generations. All these findings indicate that hypocatalasemia is the heterozygous carrier state for the gene which, when homozygous, is responsible for acatalasemia.…”

“…This group collected all blood specimens and delivered them under refrigeration to the laboratory in Hiroshima within a few hours after obtaining the samples. The families investigated are those in which acatalasemia cases were previously detected, and they have been the subject of earlier reports (1,6,15,16).…”

Oxidative Hemolysis and Erythrocyte Metabolism in Hereditary Acatalasia*

“…Cellular concentrations of GSH were normal and were stable when erythrocytes were exposed to acetylphenylhydrazine (18). None of the acatalasic subjects had physical or historical evidence of the severe gangrenous oral infections or other medical difficulties reported in acatalasic Japanese (25,26). The propositus was originally identified in 1961 during a screening study of 38,775 blood samples from Swiss males entering military service.…”

Glucose-6-phosphate dehydrogenase deficiency: a historical perspective

“…Fifty years ago 3 enzyme deficiencies that produce disease in humans had been identified, all in human erythrocytes. These enzymes were catalase, 1 galactose-1-phosphate uridyltransferase, 2 and glucose-6-phosphate dehydrogenase (G6PD). 3 Although each of these deficiencies was discovered in red blood cells, only G6PD deficiency produces a hematologic disorder, namely hemolytic anemia, and it was as a result of investigation of hemolytic anemia that brought this common enzymatic deficiency to light.…”