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Canavan disease: a novel mutation.
[canavan disease]
Canavan
disease
,
an
autosomal
recessive
inherited
leukodystrophy
caused
by
an
aspartoacylase
deficiency
,
is
common
among
children
of
Ashkenazi
Jewish
descent
.
We
report
on
a
non-
Jewish
female
infant
who
presented
at
age
6
months
with
progressive
macrocephaly
and
developmental
delay
.
A
sequence
analysis
of
the
aspartoacylase
gene
revealed
compound
heterozygosity
for
a
known
mutation
and
for
the
mutation
c
.
432
G
>
A
in
exon
2
,
which
has
not
yet
been
described
in
Canavan
disease
.