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A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
[canavan disease]
Canavan
disease
is
a
severe
autosomal
recessive
leukodystrophy
characterized
by
macrocephaly
,
ataxia
,
severe
motor
and
mental
retardation
,
dysmyelination
,
and
progressive
spongial
atrophy
of
the
brain
.
The
human
aspartoacylase
(
ASPA
)
gene
,
which
catalyzes
the
deacetylation
of
N-
acetyl-
L-
aspartate
,
is
mutated
in
Canavan
disease
.
In
the
presented
family
sequencing
analysis
for
the
aspartoacylase
gene
was
performed
on
the
blood
samples
of
the
parents
as
the
affected
child
had
died
due
to
Canavan
disease
.
After
the
mutation
was
detected
,
prenatal
diagnosis
was
also
performed
and
heterozygous
Y
88
X
mutation
was
detected
in
the
fetus
.
In
this
report
,
we
present
a
novel
mutation
Y
88
X
within
the
aspartoacylase
gene
in
a
consanguineous
family
with
an
affected
child
diagnosed
as
Canavan
disease
.
Diseases
Validation
Diseases presenting
"ataxia"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
cadasil
canavan disease
cholangiocarcinoma
cystinuria
dystrophic epidermolysis bullosa
familial mediterranean fever
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
locked-in syndrome
omenn syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated