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New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
[canavan disease]
Canavan
disease
(
OMIM
271900
)
is
a
severe
autosomal
recessive
neurodegenerative
disorder
characterized
by
spongy
degeneration
of
the
brain
and
caused
by
mutations
in
the
gene
encoding
for
aspartoacylase
(
ASPA
)
.
The
enzyme
is
responsible
for
the
catalyses
of
the
brain
-
specific
compound
N-
acetylaspartate
(
NAA
)
.
We
report
the
case
of
two
Egyptian
sibling
patients
suspected
of
Canavan
disease
(
CD
)
showing
clinical
deterioration
,
white
matter
degeneration
,
megalencephaly
and
severe
intellectual
impairment
.
The
patients
underwent
magnetic
resonance
imaging
(
MRI
)
and
biochemical
analysis
of
NAA
in
biological
fluid
samples
(
serum
and
urine
)
.
Subsequently
,
in
order
to
determine
the
mutation
responsible
for
CD
in
these
two
sibs
,
a
molecular
biological
examination
was
performed
.
MRI
findings
and
quantification
of
high
NAA
excretion
(
1378
.
5
and
680
.
1
μmolNAA
/
mmolcreatinine
in
urine
of
4
months
and
4
years
old
patients
,
respectively
)
confirmed
the
diagnosis
of
CD
and
prompted
a
search
for
the
responsible
mutation
.
The
molecular
biological
analysis
revealed
homozygosity
for
the
substitution
T
530
C
(
Ile
177
Thr
)
in
the
exon
4
of
the
ASPA
gene
in
both
sibs
.
A
total
loss
of
enzymatic
activity
was
also
recorded
.
The
substitution
T
530
C
(
Ile
177
Thr
)
results
in
a
novel
missense
mutation
causing
a
CD
phenotype
with
severe
clinical
characteristics
.
This
mutation
was
not
previously
described
in
the
literature
.
In
these
two
sibs
,
urinary
concentration
of
NAA
appears
to
correlate
inversely
to
symptom
severity
and
CD
progression
.
Diseases
Validation
Diseases presenting
"total loss"
symptom
canavan disease
dystrophic epidermolysis bullosa
kindler syndrome
oculocutaneous albinism
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