Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated