A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) |
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Authors: | Wang He Ya V Voznyi A M Boer W J Kleijer O P van Diggelen |
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Institution: | (1) Department of Clinical Genetics, Erasmus University, Rotterdam, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands;(2) Institute of Biochemistry, Academy of Sciences Armenian Republic, Yerevan |
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Abstract: | Summary 4-Methylumbelliferyl--N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomalN-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed <1% of mean normal GlcNAc-6S sulphatase activity. The enzymatic liberation of the fluorochrome from 4-methyl-umbelliferyl--N-acetylglucosamine 6-sulphate requires the sequential action of the GlcNAc-6S sulphatase and -N-acetylglucosaminidase. A normal level of -N-acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl--N-acetylgluco-saminide formed by the GlcNAc-6S sulphatase. A second incubation in the presence of excess -N-acetyglucosaminidase is needed to avoid underestimation of the GlcNAc-6S sulphatase activity. |
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