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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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