[Acatalasemia--Takahara's disease]. 1999

H Perner, and C Krenkel, and B Lackner, and H Hintner, and T Hawranek
Dermatologische Abteilung der Landeskrankenanstallen Saltzburg.

The case of a 30 year old man with acatalasemia is presented. The congenital disorder is charaterized by a lack or major reduction of catalase, an enzyme that catalyzes the decomposition of hydrogen peroxide to oxygen and water. The defect is inherited in an autosomal recessive fashion. Occasionally the defect manifests as progressive oral gangrene or Takahara's, disease.

UI MeSH Term Description Entries
D008297 Male Males
D009061 Mouth Mucosa Lining of the ORAL CAVITY, including mucosa on the GUMS; the PALATE; the LIP; the CHEEK; floor of the mouth; and other structures. The mucosa is generally a nonkeratinized stratified squamous EPITHELIUM covering muscle, bone, or glands but can show varying degree of keratinization at specific locations. Buccal Mucosa,Oral Mucosa,Mucosa, Mouth,Mucosa, Oral
D002374 Catalase An oxidoreductase that catalyzes the conversion of HYDROGEN PEROXIDE to water and oxygen. It is present in many animal cells. A deficiency of this enzyme results in ACATALASIA. Catalase A,Catalase T,Manganese Catalase,Mn Catalase
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006861 Hydrogen Peroxide A strong oxidizing agent used in aqueous solution as a ripening agent, bleach, and topical anti-infective. It is relatively unstable and solutions deteriorate over time unless stabilized by the addition of acetanilide or similar organic materials. Hydrogen Peroxide (H2O2),Hydroperoxide,Oxydol,Perhydrol,Superoxol,Peroxide, Hydrogen
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D020642 Acatalasia A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. Acatalasemia,Hypocatalasemia,Acatalasemia Japanese Type,Acatalasemia Swiss Type,Catalase Deficiency,Hypocatalasia,Takahara Disease,Takahara's Disease,Catalase Deficiencies,Deficiencies, Catalase,Deficiency, Catalase,Disease, Takahara,Disease, Takahara's,Japanese Type, Acatalasemia,Swiss Type, Acatalasemia,Takaharas Disease

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