Rare Diseases Symptoms Automatic Extraction
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[Globoid cell leukodystrophy of adult. A first case in Poland].
[krabbe disease]
Krabbe
disease
(
globoid
cell
leukodystrophy
)
is
a
progressive
,
autosomal
recessive
disorder
affecting
peripheral
and
central
nervous
system
.
This
disease
is
associated
with
mutation
in
GALC
gene
and
its
locus
has
been
mapped
to
chromosome
14
q
31
.
GALC
gene
codes
lysosomal
hydrolytic
enzyme
:
galactocerebroside
β-galactosidase
(
galactosylceramidase
)
which
is
crucial
for
degradation
of
galactolipids
,
mostly
galactosylceramide
and
galactosylsphingosine
(
psychosine
)
.
The
disease
may
be
subdivided
into
four
types
:
infantile
form
with
onset
within
the
first
six
months
,
child
form
presenting
between
6
months
and
3
years
,
juvenile
form
presenting
between
3
and
10
years
and
the
rarest
adult
form
with
onset
after
10
years
.
The
diagnosis
of
Krabbe
disease
is
based
on
clinical
findings
and
confirmed
with
galactocerebroside
β-galactosidase
deficiency
.
We
have
found
family
with
adult-onset
disease
.
To
our
knowledge
,
this
is
the
first
observation
of
patient
with
adult
form
of
Krabbe
disease
in
Poland
.
Diseases
Validation
Diseases presenting
"found family with adult-onset disease"
symptom
krabbe disease
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