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Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
[krabbe disease]
Krabbe
disease
(
OMIM
#
245200
)
is
a
rare
autosomal
recessive
leukodystrophy
caused
by
deficiency
of
galactocerebrosidase
(
GALC
)
activity
.
We
identified
four
novel
mutations
of
the
GALC
gene
in
two
unrelated
Chinese
families
with
Krabbe
disease
:
one
insertion
mutation
,
c
.
1836
_
1837
insT
,
and
one
nonsense
mutation
,
c
.
599
C
>
A
(
p
.
S
200
X
)
,
in
an
infantile
patient
,
and
one
deletion
mutation
,
c
.
1911
+
1
_
1911
+
5
delGTAAG
,
and
one
missense
mutation
,
c
.
2041
G
>
A
,
in
an
adult
late-onset
patient
.
This
is
the
first
identification
of
GALC
mutations
in
the
Chinese
population
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated