Diagnosis of subtypes of GM1 gangliosidosis in vitro and in vivo--using urinary oligosaccharides as substrates

Clinica Chimica Acta; International Journal of Clinical Chemistry
Y Takahashi, T Orii

Abstract

In order to delineate clinical subtypes of GM1 gangliosidosis enzymologically, we prepared galactosyl oligosaccharides from the urine of patients, as substrates, and established the method of the galactosyl oligosaccharide beta-galactosidase assay. Galactosyl oligosaccharides beta-galactosidase activities (nmol/mg protein/20 h) in vitro, using substrates without repeating structures were; type 1, 1.0 +/- 0.5 (n = 6), type 2A, 2.1, type 2B, 3.4 +/- 0.7 (n = 5), type 3, 4.9 +/- 0.2 (n = 2). The activities in vitro using substrates with repeating structures were: type 1, 0.3 +/- 0.2 (n = 5), type 2A, 1.2, type 2B, 2.2 +/- 0.5 (n = 4), type 3, 4.2 +/- 0.3 (n = 2). The activities using substrates with and without repeating structures were affected in the fibroblasts of patients, and the residual activities in each subtype were reduced progressively with the increasing severity of the clinical features. The ratio between activities using substrates without repeating structures and activities using substrates with repeating structures indicated that beta-galactosidase activities toward Gal beta 1- of repeating structures were reduced progressively with the increasing severity of the clinical features. The activities in vivo (pmol/mg p...Continue Reading

References

Sep 1, 1975·The Tohoku Journal of Experimental Medicine·T OriiT Nakao
Jul 15, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·T KudohT Sakagami
Jan 1, 1988·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·A Schmitt-Gräff
Oct 27, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·T YutakaH Yabuuchi
Feb 7, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·T G WarnerJ S O'Brien
Jan 1, 1983·Annual Review of Genetics·T G Warner, J S O'Brien
Sep 1, 1984·Neuropediatrics·A Kohlschütter

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Citations

Dec 16, 1991·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y TakahashiT Orii
Jun 6, 2009·Veterinary Dermatology·Joseph A Bernstein, Peter J Didier
May 26, 2017·Journal of Medical Primatology·Shyamesh KumarEdward J Dick

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