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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) (1993)

He, Wang ; Voznyi, Ya. V. ; Boer, A. M. ; [et al.]

Springer

Journal of inherited metabolic disease 16 (1993), S. 935-941

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary 4-Methylumbelliferyl-α-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-α-N-acetylglucosamine 6-sulphate requires the sequential action of the GlcNAc-6S sulphatase and α-N-acetylglucosaminidase. A normal level of α-N-acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-α-N-acetylgluco-saminide formed by the GlcNAc-6S sulphatase. A second incubation in the presence of excess α-N-acetyglucosaminidase is needed to avoid underestimation of the GlcNAc-6S sulphatase activity.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00711508

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