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An Improved Procedure for Diagnosis of Gaucher Disease Using Cultured Skin Fibroblasts and the Chromogenic Substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside

An Improved Procedure for Diagnosis of Gaucher Disease Using Cultured Skin Fibroblasts and the Chromogenic Substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside

R J Barns, A E Clague

Clin Chim Acta. 1982 Mar 26;120(1):57-63.

PMID: 7067140

Abstract:

A procedure has been developed for the determination of glucocerebrosidase activity using the substrate analogue, 2-N-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside (HNGlu) with sodium taurocholate and oleic acid as activators. Cultured skin fibroblasts and amniotic fluid cells have been used as the enzyme source. It has been used successfully to confirm the diagnosis of two Type I and two Type II Gaucher patients. The procedure shows approximately a 15-fold increase in sensitivity over other procedures using HNGlu as substrate. Compared with 4-methylumbelliferyl-beta-D-glucoside, HNGlu proves to be a highly specific substrate for glucocerebrosidase with little or no hydrolysis by the beta-glucosidases present in fibroblast extracts. It is therefore the chromogenic substrate of choice for determining a glucocerebrosidase deficiency.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP2492877	4-Nitrophenyl β-D-glucopyranoside		2492-87-7	Price

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