A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)

Summary 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

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 1993, Vol.16 (2), p.465-472
Hauptverfasser:	Voznyi, Ya. V., Karpova, E. A., Dudukina, T. V., Tsvetkova, I. V., Boer, A. M., Janse, H. C., Diggelen, O. P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetyltransferases - deficiency Acetyltransferases - metabolism Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Cells, Cultured Errors of metabolism Fibroblasts - enzymology Fluorometry Heterozygote Humans Hymecromone - analogs & derivatives Hymecromone - metabolism Leukocytes - enzymology Medical sciences Metabolic diseases Mucopolysaccharidosis III - diagnosis Mucopolysaccharidosis III - enzymology Reference Values
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Beschreibung
Zusammenfassung:	Summary 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
ISSN:	0141-8955 1573-2665
DOI:	10.1007/BF00710299