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Krabbe disease: the importance of early diagnosis for prognosis.
[krabbe disease]
Krabbe
disease
(
globoid
cell
leukodystrophy
)
is
an
inherited
recessive
autosomal
leukodystrophy
caused
by
deficiency
of
the
enzyme
galactocerebrosidase
.
The
lack
of
this
enzyme
leads
to
the
build-up
of
galactolipids
that
will
promote
the
death
of
oligodendrocytes
and
the
demyelination
of
the
central
and
peripheral
nervous
systems
.
There
are
two
clinical
forms
:
early
onset
and
late
onset
.
This
article
reports
a
case
of
late
onset
Krabbe
disease
and
discusses
the
importance
of
early
diagnosis
for
its
prognosis
.
Diseases
Validation
Diseases presenting
"peripheral nervous systems"
symptom
krabbe disease
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