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Progressive Mental Regression in Siblings With Morquio Disease Type B (Mucopolysaccharidosis IV B)

Progressive Mental Regression in Siblings With Morquio Disease Type B (Mucopolysaccharidosis IV B)

R Giugliani, M Jackson, S J Skinner, C M Vimal, A H Fensom, N Fahmy, A Sjövall, P F Benson

Clin Genet. 1987 Nov;32(5):313-25.

PMID: 3121219

Abstract:

A brother and sister with clinical and radiological features of Morquio disease, but with atypical mental regression, are described. Leucocyte and fibroblast beta-galactosidase activity was deficient in the siblings, while N-acetylgalactosamine 6-sulphate sulphatase and neuraminidase were normal. Study of the residual fibroblast beta-galactosidase activity towards 4-methylumbelliferyl and p-nitrophenyl beta-D-galactosides indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1-gangliosidosis. The patients have therefore been classified as having Morquio B disease with atypical mental regression rather than GM1-gangliosidosis variants with particularly severe bony abnormalities. The mutation was, however, distinct from that in Morquio B disease since residual activity towards the alternative artificial substrate 4-methylumbelliferyl-beta-D-fucoside was increased. The patients represent further examples of the heterogeneity that can result from mutation at the beta-galactosidase locus.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP55487939	4-Methylumbelliferyl β-D-fucoside		55487-93-9	Price

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