A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)
YV Voznyi, EA Karpova, TV Dudukina… - Journal of inherited …, 1993 - Wiley Online Library
Both the α‐and β‐anomers of 4‐methylumbelliferyl‐d‐glucosaminide were synthesized and
shown to be substrates for the lysosomal acetyl‐CoA: glucosaminideN‐acetyltransferase.
Using the β‐anomer, fibroblasts and leukocytes from 11 different Sanfilippo C patients
showed< 1% of mean normalN‐acetyltransferase activity. Heterozygotes showed
intermediate activities. The enzymatic liberation of the fluorochrome from 4‐
methylumbelliferyl‐β‐d‐glucosaminide requires the sequential action of theN …
shown to be substrates for the lysosomal acetyl‐CoA: glucosaminideN‐acetyltransferase.
Using the β‐anomer, fibroblasts and leukocytes from 11 different Sanfilippo C patients
showed< 1% of mean normalN‐acetyltransferase activity. Heterozygotes showed
intermediate activities. The enzymatic liberation of the fluorochrome from 4‐
methylumbelliferyl‐β‐d‐glucosaminide requires the sequential action of theN …
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)
W He, YV Voznyi, AM Boer, WJ Kleijer… - Journal of inherited …, 1993 - Wiley Online Library
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 …
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 …