title: Characterization of acatalasemia detected in two Hungarian sisters.
abstract: Acatalasemia was detected in 2 sisters of a Hungarian family. The pedigree of the family showed hypocatalasemia in the children of the patients and in 1 of their brothers, while the other members of the family had normal blood catalase activity. The biochemical characterization (catalase activity, electrophoretic migration, isoelectric point and enzyme stability) of the blood as well as tissue catalase of the acatalasemic patients yielded a catalase form which did not differ from normal.
authors.affiliation: Laboratory Department, Municipal Hospital, Sümeg, Hungary.
authors.forename: L
authors.initials: L
authors.lastname: Góth
mesh_terms: D020642:Acatalasia; D000328:Adult; D001344:Autopsy; D002374:Catalase / Q000097:blood* / Q000302:isolation & purification; D002648:Child; D004795:Enzyme Stability; D005260:Female; D006801:Humans; D006814:Hungary; D007525:Isoelectric Focusing; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D009928:Organ Specificity; D010375:Pedigree; D012016:Reference Values
chemical_list: D002374:Catalase