関: acatalasemia

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/24 16:15:55」(JST)

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

Presentation

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

Genetic Basis

Occurrence of acatalasia is often the result of mutation in the CAT gene which codes for the enzyme catalase.^[3]

Occurrence

Researchers estimate that the condition occurs in every 12,500th person in Japan, every 20,000th in Hungary, and every 20,000th person in Switzerland.^[3]

History

In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.^[4] 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.

References

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ 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.
^ ^a ^b "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
^ 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.

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English Journal

Acatalasemia and diabetes mellitus.

Góth L, Nagy T.SourceDepartment of Medical Laboratory Analytics, Medical and Health Science Center, University of Debrecen, P.O. Box 55, Debrecen H-4012, Hungary. goth@dote.hu
Archives of biochemistry and biophysics.Arch Biochem Biophys.2012 Sep 15;525(2):195-200. doi: 10.1016/j.abb.2012.02.005. Epub 2012 Feb 16.
The enzyme catalase catalyzes the breakdown of hydrogen peroxide into oxygen and water. It is the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide is a highly reactive small molecule formed as a natural byproducts of energy metabolism. Excessive concentrations may cause significant
PMID 22365890

Catalase -262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary.

Kósa Z, Fejes Z, Nagy T, Csordás M, Simics E, Remenyik E, Góth L.SourceDepartment of Medical Laboratory Analytics, Medical and Health Science Center, University of Debrecen, Debrecen, P. O. Box 55, 4012, Hungary.
Molecular biology reports.Mol Biol Rep.2012 Apr;39(4):4787-95. doi: 10.1007/s11033-011-1272-6. Epub 2011 Sep 24.
Catalase is the main regulator of hydrogen peroxide metabolism. In vitiligo patients there are conflicting data on its activity and no data on the effect of -262C>T polymorphism in the catalase gene. Blood catalase activity, -262C>T polymorphism and acatalasemia mutations were examined in 75 v
PMID 21947853

Acatalasemic mice are mildly susceptible to adriamycin nephropathy and exhibit increased albuminuria and glomerulosclerosis.

Takiue K, Sugiyama H, Inoue T, Morinaga H, Kikumoto Y, Kitagawa M, Kitamura S, Maeshima Y, Wang DH, Masuoka N, Ogino K, Makino H.SourceDepartment of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Kita-ku, Okayama 700-8558, Japan.
BMC nephrology.BMC Nephrol.2012 Mar 25;13:14. doi: 10.1186/1471-2369-13-14.
BACKGROUND: Catalase is an important antioxidant enzyme that regulates the level of intracellular hydrogen peroxide and hydroxyl radicals. The effects of catalase deficiency on albuminuria and progressive glomerulosclerosis have not yet been fully elucidated. The adriamycin (ADR) nephropathy model i
PMID 22443450

Japanese Journal

無カタラーゼ症に就て

口腔病學會雜誌 19(1), 18-25, 1952
NAID 130004280875

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リンク元	「無カタラーゼ血症」「acatalasemia」「無カタラーゼ症」

「無カタラーゼ血症」

Acatalasia
	Basic structure of a peroxisome
Classification and external resources
Specialty	Medicine
ICD-10	E80.3
ICD-9-CM	277.89
OMIM	115500
DiseasesDB	30598
MeSH	D020642
	[edit on Wikidata]

　　[★]

英: acatalasemia, acatalasia
同: 高原病 Takahara disease
関: 無カタラーゼ症

「acatalasemia」

　　[★]

無カタラーゼ血症、無カタラーゼ症

関: acatalasemic、acatalasia

「無カタラーゼ症」

　　[★]

英: acatalasia、acatalasemia
関: 無カタラーゼ血症

[Andrews-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.

[:0-3] "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.

[4] 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.

v t e Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)

Peroxisome biogenesis disorder	Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1

Enzyme-related	Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1

Transporter-related	X-linked adrenoleukodystrophy

Lysosomal	Danon disease

See also: proteins, intermediates

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acatalasia