Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
[krabbe disease]
A
clear
cut
genotype-phenotype
correlation
for
Krabbe
disease
is
not
available
.
Therefore
,
it
is
important
to
identify
new
mutations
and
their
associated
phenotypes
to
predict
the
prognosis
of
the
disease
.
The
aim
of
this
study
is
to
identify
the
causative
mutation
(
s
)
in
a
family
with
Krabbe
disease
.
After
a
clinical
evaluation
and
suspicion
of
Krabbe
disease
galactocerebrosidase
activity
was
analyzed
and
GALC
gene
mutation
analysis
was
performed
.
The
galactocerebrosidase
enzyme
activity
was
0
.
01
nmol
/
mg
/
h
protein
(
normal
range
0
.
8
-
4
)
.
For
further
investigation
mutation
screening
was
performed
by
Sanger
sequencing
across
the
17
exons
of
GALC
gene
.
A
novel
homozygous
mutation
c
.
727
delT
(
p
.
S
243
QfsX
7
)
was
found
.
In
this
study
we
present
the
clinical
findings
along
with
a
novel
GALC
mutation
in
a
consanguineous
Turkish
family
.
Although
the
relationship
between
the
various
genotypes
and
phenotypes
in
Krabbe
disease
has
not
been
fully
elucidated
an
accurate
genetic
family
study
is
helpful
for
genetic
counseling
follow-up
and
therapy
of
Krabbe
disease
.
Also
,
it
is
important
to
identify
new
mutations
in
order
to
clarify
their
clinical
importance
,
to
assess
the
prognosis
of
the
disease
,
and
to
suggest
either
prenatal
diagnosis
or
preimplantation
genetic
diagnosis
to
the
effected
families
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom