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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

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Recent clinical studies

Etiology

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 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

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

Distribution of polymorphic traits in Mazandaranian and Guilanian in Iran.

Ohkura K, Miyashita T, Nakajima H, Matsumoto H, Matsutomo K, Rahabar S, Hedayat S
Hum Hered 1984;34(1):27-39. doi: 10.1159/000153414. PMID: 6234219

The oxidation of metallic mercury by catalase in relation to acatalasemia.

Ogata M, Aikoh H
Ind Health 1983;21(4):219-30. doi: 10.2486/indhealth.21.219. PMID: 6317620

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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

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

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.

Wanders RJ, Schutgens RB, Schrakamp G, van den Bosch H, Tager JM, Schram AW, Hashimoto T, Poll-Thé BT, Saudubrau JM
Eur J Pediatr 1986 Aug;145(3):172-5. doi: 10.1007/BF00446057. PMID: 2429839

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.

Versmold HT, Bremer HJ, Herzog V, Siegel G, Bassewitz DB, Irle U, Voss H, Lombeck I, Brauser B
Eur J Pediatr 1977 Mar 18;124(4):261-75. doi: 10.1007/BF00441934. PMID: 844460

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

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

Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia.

Hamada Y, Kameyama Y, Iizuka T, Ishizaki T, Nishiyama T, Isshiki A
Anesthesiology 2004 Jul;101(1):247-8. doi: 10.1097/00000542-200407000-00038. PMID: 15220799

Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.

Lachaise F, Martin G, Drougard C, Perl A, Vuillaume M, Wegnez M, Sarasin A, Daya-Grosjean L
Free Radic Biol Med 2001 Jun 15;30(12):1365-73. doi: 10.1016/s0891-5849(01)00532-9. PMID: 11390181

Distribution of polymorphic traits in Mazandaranian and Guilanian in Iran.

Ohkura K, Miyashita T, Nakajima H, Matsumoto H, Matsutomo K, Rahabar S, Hedayat S
Hum Hered 1984;34(1):27-39. doi: 10.1159/000153414. PMID: 6234219

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

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

HIV gene expression enhances T cell susceptibility to hydrogen peroxide-induced apoptosis.

Sandstrom PA, Roberts B, Folks TM, Buttke TM
AIDS Res Hum Retroviruses 1993 Nov;9(11):1107-13. doi: 10.1089/aid.1993.9.1107. PMID: 7906132

Del11p13/nephroblastoma without aniridia.

Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier JL, Chavin-Colin F, Junien C
Hum Genet 1984;67(4):455-6. doi: 10.1007/BF00291410. PMID: 6092262

Immunological properties of erythrocyte catalase in Japanese type acatalasemia.

Ogata M, Mizugaki J
Acta Med Okayama 1982 Apr;36(2):95-8. doi: 10.18926/AMO/30677. PMID: 7136855

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