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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
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated