CS
DS
x
x
x
x
x
x
 35S-sulfate: Direct counting after enzymatic
digestion
x
x
 S-sulfate: Immunoprecipitation and SDS-PAGE
x
x
x
x
HS
KS HA
Glycosyltransferases
(linker)
Glycosyltransferases
(polymerases)
Epimerases
Specific/
multiple sulfotransferases
References
Fibroblast incubation with isotope-labeled substrate
 35S-sulfate: Direct counting from cell lysate or
SDS-PAGE
35
 S-sulfate: Enzymatic digestion and HPLC with
MS detection
 3H-glucosamine: Enzymatic digestion and HPLC
with liquid scintillation counting detection
Fibroblasts or culture supernatants
DTDST
(nultiple)
XylT-I
GalT-I
x
XylT-II
Seidler et al 2006
GalT-I
34
 SDS-PAGE and immunoblotting
C6ST
D4ST
x
x
x
x
x
x
x
 Immunofluorescence (FACS or microscopy)
 Immunohistochemistry
D4ST
x
x
DS
epimerase
x
x
CS
polymerase
x
x
x
Urine or plasma-based assays
 Enzymatic digestion and HPLC with fluorescence
x
detection (urine)
 Enzymatic digestion and HPLC with fluorescence
x
x
detection (blood)
Urine or plasma-based assays: potential tests for all GAG biosynthesis disorders
 Enzymatic digestion and HPLC with MS detection
x
x
x
x
(blood and urine)
 Chemical cleavage and HPLC with MS detection
x
x
x
(urine)
 Enzymatic digestion and HPLC with fluorescence
x
x
x
detection (urine)
D4ST
Miyake et al 2010
C6ST
HS
polymerase
Miyake et al 2010
Muller et al 2013
C6ST
DS
epimerase
x
Hermanns et al 2008
Munns et al 2015
Thiele et al 2004,
Van Roij et al 2008
Muller et al 2013
XylT-II
x
 Enzymatic digestion and HPLC with fluorescence
detection
Dundar et al 2009
Baasanjav et al 2011
Malfait et al 2013
Baasanjav et al 2011
Malfait et al 2013
Tian et al 2010
GlcAT-I
GalT-II
GlcAT-I
GalT-II
x
Superti Furga 1996,
Rossi et al 1996
Bui et al 2014
Quentin et al 1990
Munns et al 2015
Thiele et al 2004,
Van Roij et al 2008
Anower-E-Khuda et
al 2013
Tomatsu et al 2014a
Zhang et al 2015
Toyoda et al 1991