Catalase hereditary deficiency

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). 

However, when PMNs were stimulated, not by antibody on the surface of the tumor cell, but instead by Concanavalin Aor by opsonized zymosan myeloperoxidase did appear to mediate the killing azide and cyanide inhibited the killing, halides were required, catalase inhibited, and PMNs from patients with either hereditary deficiency of myeloperoxidase or chronic granulomatous disease were... 

The first demonstration of the use of artificial cells for enzyme replacement in hereditary enzyme deficiency conditions involved the implantation of artificial cells containing catalase to replace the hereditary catalase deficiency in acatalasemlc mice... 

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