Acatalasia

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Acatalasia
Classification and external resources
Peroxisome.jpg
Basic structure of a peroxisome
ICD-10 E80.3
ICD-9 277.89
OMIM 115500
DiseasesDB 30598
MeSH D020642

Acatalasia (also called acatalasemia, or Takahara's disease[1]:809) is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.

Presentation[edit]

The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.[2]

History[edit]

In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.[3] He had examined a patient with an oral ulcer. He had spread hydrogen peroxide on the diseased part, but oxygen was not generated due to the lack of catalase.

See also[edit]

References[edit]

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ Takahara, Shigeo; Hamilton, H. B.; Neel, J. V.; Kobara, T. Y.; Ogura, Y.; Nishimura, E. T. (1960). "Hypocatalasemia: a new genetic carrier state". Journal of Clinical Investigation 39 (4). doi:10.1172/JCI104075. 
  3. ^ Takahara, S.; Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948.