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A rare syndrome of congenital constitutional insufficiency of catalase. Manifest clinically as chronic, severe infection of mouth; gangrenous lesions, including pyrrhea and loosening of the teeth; gangrene seldom occurs after puberty. Only 50 % of persons homozygous for acatalasemia have any clinical manifestations.
Common in Japanese and Koreans, also described in Swiss families and, more recently, in other racial and ethnic groups. Inheritance is autosomal recessive.
Bibliography
S. Takahara:
• Progressive oral gangrene probably due to lack of catalase, in the blood (acatalasaemia).
Report of nine cases. Lancet, London, 1952; 11: 1101.
T. Matsunaga, R. Seger, P. Hoger, et al:
Report of nine cases. Lancet, London, 1952; 11: 1101.
T. Matsunaga, R. Seger, P. Hoger, et al:
• Congenital acatalesemia: A study of neutrophil functions after provocation with hydrogen
peroxide.
Pediatric Research, Baltimore, 1985, 19: 1187-1190.
Barry G. Firkin and Judith A. Whitworth:
peroxide.
Pediatric Research, Baltimore, 1985, 19: 1187-1190.
Barry G. Firkin and Judith A. Whitworth:
• Dictionary of Medical Eponyms.
The Parthenon Publishing Group. 1989. New edition in 2002.
Bernfried Leiber, editor:
Bernfried Leiber, editor:
• Die klinischen Syndrome. Syndrome, Sequenzen und Symptomenkomplexe.
Urban & Schwarzenberg, München-Wien-Baltimore, 1990. 8th edition, München 1997.
Sergio I. Magalini, Sabina C. Magalini, Giovanni de Francisi:
Sergio I. Magalini, Sabina C. Magalini, Giovanni de Francisi:
• Dictionary of Medical Syndromes. J. B. Lippincott Company, Philadelphia. 1990.
Stanley Jablonski:
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
Stanley Jablonski:
• Jablonski’s Dictionary of Syndromes & Eponymic diseases.
Krieger Publishing Company, Malabar, Florida, 1991.
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Whonamedit? does not give medical advice.This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.