Observations in two Swiss Families with Acatalasia

Abstract

(1) In two Swiss families 8 acatalatic and 30 hypocatalatic subjects have been found. Whereas blood catalase activity varies in hypocatalatic subjects from 16-85% of normal, a small but distinct residual activity has been found in acatalatics. This corresponds to 0.1-1.3% of normal activity and does not differ from blood catalase of normal subjects in respect to electrophoretic mobility and azide sensitivity. (2) All acatalatic subjects are in a good state of health. The analysis of their blood in respect to serum, red cell and white cell enzyme patterns revealed no or only minor differences, except that catalase is lacking in the white cells, too. In contrast to normal red cells, those from acatalatic subjects are unable to perform peroxidatic oxidation reactions in the presence of a suitable H202 donor. (3) Intact red cells from acatalatic humans - like those from the duck - exert an exceptionally high rate of methemoglobin formation when exposed to X-rays; it is 10-20 times higher than that in normal human red cells. Addition of small amounts of catalase before irradiation reduces the rate to that of normal.

Oxidative Hemolysis and Erythrocyte Metabolism in Hereditary Acatalasia*

“…The propositus was originally identified in 1961 during a screening study of 38,775 blood samples from Swiss males entering military service. Quantitative analyses of whole blood catalase by a perborate titrimetric method (27) and a spectrophotometric method (28) were previously reported to range from 0.1 to 1.3% of normal levels in the acatalasic subjects and were roughly 50% of normal in their hypocatalasic relatives (29). None of the acatalasic hemolysates showed precipitation in Ouchterlony diffusion tests with an anticatalase rabbit serum (29).…”

“…Quantitative analyses of whole blood catalase by a perborate titrimetric method (27) and a spectrophotometric method (28) were previously reported to range from 0.1 to 1.3% of normal levels in the acatalasic subjects and were roughly 50% of normal in their hypocatalasic relatives (29). None of the acatalasic hemolysates showed precipitation in Ouchterlony diffusion tests with an anticatalase rabbit serum (29). In the present studies, as judged by a permanganate titration method (30), catalase was absent both in acatalasic erythrocytes and leukocytes.…”

Observations in two Swiss Families with Acatalasia II

“…Therefore no definite statement can be made as to the identity of these defects. Considering the western acatalatics exclusively, this * A first report on acatalasia families in Switzerland has been published pre viously in this journal [6,7].…”

Catalase Activity of Immature and Mature Red Cells from Acatalasemic Mouse Mutant

“…In 1960, however, acatalasemia was also found in Switzerland [4]. The name of acatalasemia does not mean a completely lack of catalase activity in the blood; some catalase like activity or residual catalase activity has been demonstrated by manometric observation by T akahara [2] in 1952 in Japanese and by A ebi [3][4][5] in 1962 in Swiss acatalasemia. The residual catalase activity in Swiss acatalasemia is kept mainly by the reticulocytes and their catalase is less resistant to heat than the catalase from normal individ uals [6].…”