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Three male siblings in a Japanese family were affected with beta-galactosidase-neuraminidase deficiency (galactosialidosis). One patient died at 45 years of age, and postmortem liver and brain tissues were studied enzymatically. The residual activity of neuraminidase was relatively high in these tissues. Neuraminidase activity did not change in the tissues after repeated freezing and thawing of the homogenates, whereas this enzyme in control tissues lost 30 to 60% of its activity. There was a profound deficiency of beta-galactosidase in the tissues of the patient. Michaelis constant, pH profiles, and cryostability were identical for the patient and control patients. Cathepsin B was moderately increased in activity in the patient's tissues.
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
September 1984,
No to hattatsu = Brain and development,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
April 1979,
European journal of pediatrics,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
January 1987,
Enzyme,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
February 1983,
Biochemistry international,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
August 1984,
Clinical genetics,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
October 1982,
Rinsho shinkeigaku = Clinical neurology,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
February 1984,
Japanese journal of medicine,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
January 1984,
International journal of neurology,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
January 1983,
Acta neuropathologica,
H Sakuraba, and
Y Suzuki, and
M Akagi, and
M Sakai, and
N Amano
August 1982,
Proceedings of the National Academy of Sciences of the United States of America,
