|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1994-4-11
|
|
pubmed:abstractText |
4-Methylumbelliferyl-alpha-N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomal N-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-alpha-N-acetylglucosamine 6-sulphate requires the sequential action of the GlcNAc-6S sulphatase and alpha-N-acetylglucosaminidase. A normal level of alpha-N-acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-alpha-N-acetylglucosaminide formed by the GlcNAc-6S sulphatase. A second incubation in the presence of excess alpha-N-acetylglucosaminidase is needed to avoid underestimation of the GlcNAc-6S sulphatase activity.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0141-8955
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
16
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
935-41
|
|
pubmed:dateRevised |
2007-3-21
|
|
pubmed:meshHeading |
pubmed-meshheading:8127069-Acetylglucosamine,
pubmed-meshheading:8127069-Fibroblasts,
pubmed-meshheading:8127069-Fluorometry,
pubmed-meshheading:8127069-Humans,
pubmed-meshheading:8127069-Hymecromone,
pubmed-meshheading:8127069-Leukocytes,
pubmed-meshheading:8127069-Lysosomes,
pubmed-meshheading:8127069-Mucopolysaccharidosis III,
pubmed-meshheading:8127069-Organometallic Compounds,
pubmed-meshheading:8127069-Substrate Specificity,
pubmed-meshheading:8127069-Sulfatases
|
|
pubmed:year |
1993
|
|
pubmed:articleTitle |
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).
|
|
pubmed:affiliation |
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
|
|
pubmed:publicationType |
Journal Article
|
