Abstract
-GANGLIOSIDOSIS occurs in two clinical forms1,2. Type 1 resembles Hurler's syndrome somatically, but its psychomotor aspect is apparent from birth and progresses rapidly to cause death by 2 years of age. Type 2 presents no Hurler signs and its psychomotor course, though similar to that in type 1, is neither congenital nor is rapidly progressive; death occurs about 5 years of age. In addition to the accumulation of -ganglioside in neural, and to a lesser extent in extraneural, tissues both types share a profound, generalized deficiency of lysosomal β-galactosidase, with storage and excretion of modified keratin sulphates. Although the clinical and biochemical definition of the type 2 form is very recent3, failure to observe both clinical types within single sibships is sufficient to suggest that each is caused by a different mutant gene. To test this hypothesis we have examined the gangliosides, glycos-aminoglycans and residual β-galactosidase activities in fibroblast cell strains derived from skin in the deltoid area of patients with each type of -gangliosidosis. This communication deals only with the last focus of interest.
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PINSKY, L., POWELL, E. & CALLAHAN, J. GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts. Nature 228, 1093–1095 (1970). https://doi.org/10.1038/2281093b0
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