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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
"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
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