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Acatalasemia, japanese type

MedGen UID:: 424830
•Concept ID:: C2936847
•: Disease or Syndrome

Synonyms:	Acatalasemia Japanese Type; Japanese Type, Acatalasemia

OMIM®:	115500

Professional guidelines

PubMed

Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus.

Vitai M, Fátrai S, Rass P, Csordás M, Tarnai I
Clin Chem Lab Med 2005;43(12):1346-50. doi: 10.1515/CCLM.2005.230. PMID: 16309371

See all (1)

Recent clinical studies

Etiology

Reduced lifespan of mice lacking catalase correlates with altered lipid metabolism without oxidative damage or premature aging.

Pérez-Estrada JR, Hernández-García D, Leyva-Castro F, Ramos-León J, Cuevas-Benítez O, Díaz-Muñoz M, Castro-Obregón S, Ramírez-Solís R, García C, Covarrubias L
Free Radic Biol Med 2019 May 1;135:102-115. Epub 2019 Feb 25 doi: 10.1016/j.freeradbiomed.2019.02.016. PMID: 30818059

Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.

Wang Q, Ni J, Zhang X, Li Y, Xuan D, Zhang J
Clin Chim Acta 2014 Jun 10;433:93-5. Epub 2014 Feb 9 doi: 10.1016/j.cca.2014.01.046. PMID: 24522161

Acatalasemia and diabetes mellitus.

Góth L, Nagy T
Arch Biochem Biophys 2012 Sep 15;525(2):195-200. Epub 2012 Feb 16 doi: 10.1016/j.abb.2012.02.005. PMID: 22365890

Catalase enzyme mutations and their association with diseases.

Góth L, Rass P, Páy A
Mol Diagn 2004;8(3):141-9. doi: 10.1007/BF03260057. PMID: 15771551

A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.

Góth L
Blood Cells Mol Dis 2001 Mar-Apr;27(2):512-7. doi: 10.1006/bcmd.2001.0415. PMID: 11500062

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Diagnosis

First description of a catalase-negative Staphylococcus aureus from a healthy carrier, with a novel nonsense mutation in the katA gene.

Laub K, Kristóf K, Tirczka T, Tóthpál A, Kardos S, Kovács E, Sahin-Tóth J, Horváth A, Dobay O
Int J Med Microbiol 2017 Dec;307(8):431-434. Epub 2017 Oct 26 doi: 10.1016/j.ijmm.2017.10.011. PMID: 29089242

Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.

Wang Q, Ni J, Zhang X, Li Y, Xuan D, Zhang J
Clin Chim Acta 2014 Jun 10;433:93-5. Epub 2014 Feb 9 doi: 10.1016/j.cca.2014.01.046. PMID: 24522161

Inherited catalase deficiency: is it benign or a factor in various age related disorders?

Góth L, Nagy T
Mutat Res 2013 Oct-Dec;753(2):147-154. Epub 2013 Sep 8 doi: 10.1016/j.mrrev.2013.08.002. PMID: 24025477

Catalase deficiency may complicate urate oxidase (rasburicase) therapy.

Góth L, Bigler NW
Free Radic Res 2007 Sep;41(9):953-5. doi: 10.1080/10715760701482451. PMID: 17729111

Studies of acatalasemia.

Feinstein RN
Birth Defects Orig Artic Ser 1973 Mar;9(2):55-61. PMID: 4611537

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Therapy

Peroxisomal abnormalities and catalase deficiency in Hutchinson-Gilford Progeria Syndrome.

Mao X, Bharti P, Thaivalappil A, Cao K
Aging (Albany NY) 2020 Mar 18;12(6):5195-5208. doi: 10.18632/aging.102941. PMID: 32186522 Free PMC Article

Reduced lifespan of mice lacking catalase correlates with altered lipid metabolism without oxidative damage or premature aging.

Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia.

Nagy T, Paszti E, Kaplar M, Bhattoa HP, Goth L
Mutat Res 2015 Feb;772:10-4. Epub 2015 Jan 3 doi: 10.1016/j.mrfmmm.2014.12.008. PMID: 25772105

Methanol teratogenicity in mutant mice with deficient catalase activity and transgenic mice expressing human catalase.

Siu MT, Wiley MJ, Wells PG
Reprod Toxicol 2013 Apr;36:33-9. Epub 2012 Dec 1 doi: 10.1016/j.reprotox.2012.11.006. PMID: 23207165

Catalase deficiency may complicate urate oxidase (rasburicase) therapy.

Góth L, Bigler NW
Free Radic Res 2007 Sep;41(9):953-5. doi: 10.1080/10715760701482451. PMID: 17729111

See all (10)

Prognosis

Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.

Wang Q, Ni J, Zhang X, Li Y, Xuan D, Zhang J
Clin Chim Acta 2014 Jun 10;433:93-5. Epub 2014 Feb 9 doi: 10.1016/j.cca.2014.01.046. PMID: 24522161

Embryonic catalase protects against endogenous and phenytoin-enhanced DNA oxidation and embryopathies in acatalasemic and human catalase-expressing mice.

Abramov JP, Wells PG
FASEB J 2011 Jul;25(7):2188-200. Epub 2011 Apr 8 doi: 10.1096/fj.11-182444. PMID: 21478259

Enhanced killing of penicillin-treated gram-positive cocci by human granulocytes: role of bacterial autolysins, catalase, and granulocyte oxidative pathways.

Isturiz R, Metcalf JA, Root RK
Yale J Biol Med 1985 Mar-Apr;58(2):133-43. PMID: 4036175 Free PMC Article

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Clinical prediction guides

Compromised glutathione synthesis results in high susceptibility to acetaminophen hepatotoxicity in acatalasemic mice.

Ogino N, Nagaoka K, Tomizuka K, Matsuura-Harada Y, Eitoku M, Suganuma N, Ogino K
Food Chem Toxicol 2021 Oct;156:112509. Epub 2021 Aug 11 doi: 10.1016/j.fct.2021.112509. PMID: 34390818

Peroxisomal abnormalities and catalase deficiency in Hutchinson-Gilford Progeria Syndrome.

Mao X, Bharti P, Thaivalappil A, Cao K
Aging (Albany NY) 2020 Mar 18;12(6):5195-5208. doi: 10.18632/aging.102941. PMID: 32186522 Free PMC Article

Reduced lifespan of mice lacking catalase correlates with altered lipid metabolism without oxidative damage or premature aging.

Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology.

Ogata M, Wang DH, Ogino K
Acta Med Okayama 2008 Dec;62(6):345-61. doi: 10.18926/AMO/30951. PMID: 19122680

A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.

Góth L
Blood Cells Mol Dis 2001 Mar-Apr;27(2):512-7. doi: 10.1006/bcmd.2001.0415. PMID: 11500062

See all (24)