beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case

Annals of Neurology
H SakurabaN Amano

Abstract

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.

References

Sep 1, 1978·Journal of Biochemistry·T TowatariN Katunuma
May 30, 1978·Biochemical and Biophysical Research Communications·D A WengerC Wharton
Aug 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·E Conzelmann, K Sandhoff
May 1, 1980·Journal of the Neurological Sciences·M KuriyamaH Umezaki
Jan 1, 1981·Journal of Inherited Metabolic Disease·I Maire, A R Nivelon-Chevallier
Nov 16, 1981·Biochemical and Biophysical Research Communications·A HoogeveenH Galjaard
Feb 12, 1980·Biochemical and Biophysical Research Communications·Y SuzukiK Ohga
Jan 1, 1980·Clinical Genetics·J S O'Brien, T G Warner

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Citations

Jun 1, 1990·Journal of the Neurological Sciences·H YoshinoA Suzuki
Apr 20, 1999·Pediatric Neurology·O SohmaK Oyanagi
Jul 31, 1986·The New England Journal of Medicine·S F BerkovicL S Wolfe
Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Dec 1, 1988·American Journal of Medical Genetics·D ChitayatJ G Hall
Nov 1, 1984·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·A BarbeauM Roy
Jan 8, 2000·Ultrastructural Pathology·Y AraiL E Becker

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