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A kitten with clinical and morphological symptoms of a neurovisceral lysosomal-storage disease has been shown to have a marked deficiency of acidic beta-D-galactosidase in the brain, kidney and spleen. Chromatography on concanavalin A-Sepharose and inhibition studies with 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine, a selective inhibitor of the neutral broad-specificity beta-D-galactosidase, have shown that the residual beta-D-galactosidase at pH 4.0 in the tissues of the affected cat is due to the neutral beta-D-galactosidase and that there is a complete deficiency of the acidic (lysosomal) beta-D-galactosidase. There is marked accumulation in all tissues and excretion in the urine of neutral oligosaccharides. Analysis of these oligosaccharides by fast-atom-bombardment mass spectrometry and g.l.c. suggests that they arise from the incomplete catabolism of N-glycans of glycoproteins. The ganglioside content of all the tissues is elevated, and it has been shown by t.l.c. that the concentration of a ganglioside fraction with a mobility similar to that of GM1 ganglioside is particularly increased. There is also some evidence of accumulation of glycosaminoglycans in the brain. The clinical symptoms, the complete deficiency of acidic beta-D-galactosidase and the storage products in visceral organs all suggest that this is a case of feline GM1-type gangliosidosis comparable with the severe infantile (Type 1) form of the disease in humans.
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
April 1977,
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C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
February 1990,
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C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
July 1989,
Clinical genetics,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
January 1976,
Birth defects original article series,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
February 1982,
Indian pediatrics,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
April 1989,
Indian pediatrics,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
November 2006,
British journal of haematology,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
January 1970,
European neurology,
C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
December 1973,
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C G Barker, and
W F Blakemore, and
A Dell, and
A C Palmer, and
P R Tiller, and
B G Winchester
September 1975,
The Tohoku journal of experimental medicine,
