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Glycosidases: inborn errors of glycosphingolipid catabolism.
[gm1 gangliosidosis]
Glycosphingolipids
(
GSLs
)
are
information-rich
glycoconjugates
that
occur
in
nature
mainly
as
constituents
of
biomembranes
.
Each
GSL
contains
a
complex
carbohydrate
chain
linked
to
a
ceramide
moiety
that
anchors
the
molecule
to
biomembranes
.
In
higher
animals
,
catabolism
of
GSLs
takes
place
in
lysosomes
where
sugar
chains
in
GSLs
are
hydrolyzed
by
exo-glycosidases
to
cleave
a
sugar
residue
from
the
non-reducing
end
of
a
sugar
chain
.
Inborn
errors
of
GSL-catabolism
,
collectively
called
sphingolipidoses
or
GSL-storage
diseases
,
are
caused
by
the
deficiency
of
exo-glycosidases
responsible
for
the
degradation
of
the
specific
sugar
residues
at
the
non-reducing
termini
in
GSLs
.
This
chapter
briefly
discusses
glycone
,
anomeric
,
linkage
,
and
aglycone
specificities
of
exo-glycosidases
and
some
of
the
historical
landmarks
on
their
associations
with
the
chemical
pathology
of
the
five
best
known
sphingolipidoses
:
GM
1
gangliosidosis
,
GM
2
gangliosidosis
(
Tay-
Sachs
disease
)
,
Fabry
disease
,
Gaucher
disease
,
and
Krabbe
disease
.
Diseases
Validation
Diseases presenting
"complex carbohydrate chain"
symptom
fabry disease
gm1 gangliosidosis
krabbe disease
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