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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
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
