Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
[canavan disease]
Canavan
disease
(
CD
)
is
an
autosomal
recessive
inherited
disorder
characterized
by
spongy
degeneration
of
the
brain
.
The
deficiency
of
aspartoacylase
(
ASPA
)
,
resulting
in
the
accumulation
of
N-
acetyl
aspartic
acid
(
NAA
)
in
the
brain
,
plays
an
important
role
in
the
pathogenesis
of
the
disease
.
The
cardinal
features
of
this
neurodegenerative
disease
are
macrocephaly
,
mental
retardation
,
and
hypotonia
.
Magnetic
resonance
imaging
(
MRI
)
of
the
brain
generally
shows
diffuse
white
matter
degeneration
and
also
elevated
excretion
of
urinary
NAA
is
usually
seen
.
A
large
number
of
mutations
were
identified
to
date
.
We
report
here
a
9
months
old
girl
with
Canavan
Disease
and
a
homozygous
c
.
79
G
>
A
mutation
in
the
ASPA
gene
,
detected
for
the
first
time
in
Turkish
population
.
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