Literature DB >> 3382341

Acatalasia discovered by accident during a disk operation.

G Pflüger1, E Kaiser.   

Abstract

During a disk operation, the wound was flushed with hydrogen peroxide, resulting in a blackish brown discoloration of the musculature without the formation of foam. Clinical observation caused the experienced biochemist to make the diagnosis of suspected acatalasia, a rare congenital metabolic defect which is inherited autosomally recessively. Investigation of the catalase activity in the hemolysate of the patient and his brother confirmed this suspicion and resulted in the first diagnosis of this condition in Austria.

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Year:  1988        PMID: 3382341     DOI: 10.1007/bf00451603

Source DB:  PubMed          Journal:  Arch Orthop Trauma Surg        ISSN: 0344-8444


  13 in total

1.  A DUAL HEREDITARY RED BLOOD CELL DEFECT IN ONE FAMILY: HYPOCATALASEMIA AND GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY.

Authors:  A SZEINBERG; A DE VRIES; J PINKHAS; M DJALDETTI; R EZRA
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1963-07

2.  NON-HEREDITARY HYPOCATALASIA.

Authors:  L ENGSTEDT; K G PAUL
Journal:  Scand J Clin Lab Invest       Date:  1965       Impact factor: 1.713

3.  Catalase abnormality in a Caucasian family in the United States.

Authors:  E W BAUR
Journal:  Science       Date:  1963-05-17       Impact factor: 47.728

4.  Two cases of acatalasia in Switzerland.

Authors:  H AEBI; J P HEINIGER; R BUETLER; A HAESSIG
Journal:  Experientia       Date:  1961-10-15

5.  Inter-individual variations in blood catalse activity.

Authors:  L ENGSTEDT; K G PAUL
Journal:  Scand J Clin Lab Invest       Date:  1960       Impact factor: 1.713

6.  Normal and abnormal blood catalase activity in adults.

Authors:  K G PAUL; L M ENGSTEDT
Journal:  Scand J Clin Lab Invest       Date:  1958       Impact factor: 1.713

7.  The assay of catalases and peroxidases.

Authors:  A C MAEHLY; B CHANCE
Journal:  Methods Biochem Anal       Date:  1954

8.  The enzymesubstrate compounds of bacterial catalase and peroxides.

Authors:  B CHANCE; D HERBERT
Journal:  Biochem J       Date:  1950-04       Impact factor: 3.857

Review 9.  Catalase: Physical and chemical properties, mechanism of catalysis, and physiological role.

Authors:  A Deisseroth; A L Dounce
Journal:  Physiol Rev       Date:  1970-07       Impact factor: 37.312

10.  [Acatalasia in a four-year-old child].

Authors:  H Polster; K Beyreiss; H J Nostitz
Journal:  Kinderarztl Prax       Date:  1968-08
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  1 in total

Review 1.  Catalase enzyme mutations and their association with diseases.

Authors:  László Góth; Péter Rass; Anikó Páy
Journal:  Mol Diagn       Date:  2004
  1 in total

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