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A Review on Acatalasemia
Corresponding Author(s) : Dr. N. Sriram
International Journal of Allied Medical Sciences and Clinical Research,
Vol. 9 No. 2 (2021): 2021 Volume - 9 Issue - 2
Abstract
Catalase deficiency, also known as acatalasemia, is a disease marked by abnormally low levels of the enzyme catalase. Many individuals with acatalasemia have never had any health issues and are now diagnosed because they have affected family members. Some of the first people diagnosed with acatalasemia developed open sores (ulcers) within their mouths, resulting in soft tissue death (gangrene). Takahara disease is a disorder that occurs when acatalasemia causes mouth ulcers and gangrene. Because of changes in oral hygiene, these complications are rarely seen in more recent cases of acatalasemia. According to studies, people with acatalasemia are more likely to develop type 2 diabetes, which is the most common type of diabetes. Type 2 diabetes affects a higher proportion of people with acatalasemia than the general population, and the disorder strikes at a younger age. Acatalasemia may also be a risk factor for other common, complex diseases, according to researchers.
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[1]. Góth L, Eaton JW. Hereditary catalase deficiencies and increased risk of diabetes. Lancet. 2000 Nov 25;356(9244):1820-1.
[2]. Genetics Home. "acatalasemia". Genetics Home Reference. Retrieved 7 November 2017.
[3]. Góth L, Nagy T. Acatalasemia and diabetes mellitus. Arch BiochemBiophys. 2012 Sep 15;525(2):195-200. doi: 10.1016/j.abb.2012.02.005. Epub 2012 Feb 16. Review.
[4]. 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): 610–619. doi:10.1172/JCI104075. PMC 293346. PMID 13836629.
[5]. Góth L, Nagy T. Inherited catalase deficiency: is it benign or a factor in various age related disorders? Mutat Res. 2013 Oct-Dec;753(2):147-154. doi: 10.1016/j.mrrev.2013.08.002. Epub 2013 Sep 8. Review.
[6]. https://ghr.nlm.nih.gov/condition/acatalasemia#synonyms
[7]. Góth L, Rass P, Páy A. Catalase enzyme mutations and their association with diseases. Mol Diagn. 2004;8(3):141-9. Review.
[8]. "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
[9]. "OMIM Entry - # 614097 - ACATALASEMIA". www.omim.org
[10]. https://rarediseases.info.nih.gov/diseases/363/acatalasemia
[11]. https://www.ncbi.nlm.nih.gov/pubmed/24522161
[12]. Góth L. A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol Dis. 2001 Mar-Apr;27(2):512-7.
[13]. www.hopkinsmedicine.org/dnadiagnostic/tests/tests/acatalasemia-test
[14]. www.sciencedirect.com/.../catalase-deficiency.
[15]. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
[16]. 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): 610–619. doi:10.1172/JCI104075. PMC 293346. PMID 13836629.
References
[2]. Genetics Home. "acatalasemia". Genetics Home Reference. Retrieved 7 November 2017.
[3]. Góth L, Nagy T. Acatalasemia and diabetes mellitus. Arch BiochemBiophys. 2012 Sep 15;525(2):195-200. doi: 10.1016/j.abb.2012.02.005. Epub 2012 Feb 16. Review.
[4]. 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): 610–619. doi:10.1172/JCI104075. PMC 293346. PMID 13836629.
[5]. Góth L, Nagy T. Inherited catalase deficiency: is it benign or a factor in various age related disorders? Mutat Res. 2013 Oct-Dec;753(2):147-154. doi: 10.1016/j.mrrev.2013.08.002. Epub 2013 Sep 8. Review.
[6]. https://ghr.nlm.nih.gov/condition/acatalasemia#synonyms
[7]. Góth L, Rass P, Páy A. Catalase enzyme mutations and their association with diseases. Mol Diagn. 2004;8(3):141-9. Review.
[8]. "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
[9]. "OMIM Entry - # 614097 - ACATALASEMIA". www.omim.org
[10]. https://rarediseases.info.nih.gov/diseases/363/acatalasemia
[11]. https://www.ncbi.nlm.nih.gov/pubmed/24522161
[12]. Góth L. A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol Dis. 2001 Mar-Apr;27(2):512-7.
[13]. www.hopkinsmedicine.org/dnadiagnostic/tests/tests/acatalasemia-test
[14]. www.sciencedirect.com/.../catalase-deficiency.
[15]. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
[16]. 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): 610–619. doi:10.1172/JCI104075. PMC 293346. PMID 13836629.
