Japanese-type acatalasemia

Acatalasemia is a rare hereditary deficiency of tissue catalase and is inherited as an autosomal recessive trait (03). This enzyme deficiency was discovered in 1948 by Takahara and Miyamoto (Tl). Two different types of acatalasemia can be distinguished clinically and biochemically. The severe form, Japanese-type acatalasemia, is characterized by nearly total loss of catalase activity in the red blood cells and is often associated with an ulcerating lesion of the oral cavity. The asymptomatic Swiss-type acatalasemia is characterized by residual catalase activity with aberrant biochemical properties. In four unrelated families with Japanese-type acatalasemia, a splicing mutation due to a G-to-A transition at the fifth nucleotide in intron 4 was elucidated (K20, W5). We have also determined a single base deletion resulting in the frameshift and premature translational termination in the Japanese patient (HI6). 

H16. Hirono, A., Sasaya-Hamada, F., Kanno, H Fujii, H., Yoshida, T., and Miwa, S., A novel human catalase mutation (358 T- del) causing Japanese-type acatalasemia. Blood Cells Mol. Dis. 21, 232-234 (1995). 

Goth, L., A new type of inherited catalase deficiencies Its characterization and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol. Dis., 27, 512, 2001. 

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See also in sourсe #XX -- [ ]

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