Acatalasia in two Peruvian siblings.
The oral findings in two Peruvian brothers, 10- and 11-years-old, with acatalasia are presented. Gingival necrosis and severe alveolar bone destruction were the main oral manifestations. Otherwise the patients were in good health. Thirteen hypocatalasemic individuals, including both parents, were found among 29 relatives of the probands examined from four generations. No other acatalasemic individuals were found. Hypocatalectic relatives of the probands did not have oral lesions, and no other abnormalities were detected. The parents of the affected children were not known to be related; however, both parents and their families come from the same small rural community. The inheritance pattern in the kindred was compatible with an autosomal recessive disorder. It is postulated that the gingival lesions resulted from damage to tissue from hydrogen peroxide generated by organisms in gingival plaque. The hydrogen peroxide cannot be degraded by gingival tissue or by leukocytes genetically lacking the enzyme catalase.
D002374:Catalase / Q000097:blood*; D002648:Child; D005808:Genes, Recessive; D005891:Gingivitis / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009336:Necrosis; D010375:Pedigree; D010518:Periodontitis / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D010568:Peru; D011859:Radiography; D014070:Tooth / Q000000981:diagnostic imaging
D002374:Catalase