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Merck

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

Clinica chimica acta; international journal of clinical chemistry (1990-02-28)
O P van Diggelen, H Zhao, W J Kleijer, H C Janse, B J Poorthuis, J van Pelt, J P Kamerling, H Galjaard
RESUMEN

4-Methylumbelliferyl-beta-D-galactopyranoside-6-sulphate was synthesized and used for the determination of galactose-6-sulphate sulphatase activity. Fibroblasts and leucocytes from 12 different Morquio A patients, showed 0.0-2.7% of mean normal galactose-6-sulphate sulphatase activity. Heterozygotes showed intermediate activities. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-beta-D-galactopyranoside-6-sulphate requires the sequential action of galactose-6-sulphate sulphatase and beta-galactosidase. Normal beta-galactosidase activity caused nearly complete hydrolysis of non-fluorescing 4-methylumbelliferyl-galactoside, formed during incubation. In cell extracts with a beta-galactosidase deficiency however, a second incubation in the presence of excess beta-galactosidase is needed to avoid underestimation of galactose-6-sulphate sulphatase activity.

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Sigma-Aldrich
4-Methylumbelliferyl β-D-galactopyranoside-6-sulfate, ≥90% (HPLC)