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Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.
[zellweger syndrome]
Zellweger
syndrome
(
cerebrohepatorenal
syndrome
)
is
very
rare
and
is
the
most
severe
form
of
peroxisomal
biogenesis
disorders
.
These
can
be
caused
by
mutations
in
any
of
the
currently
known
Peroxin
genes
and
typically
present
in
the
neonatal
period
with
multiorgan
involvement
.
Patients
usually
do
not
survive
beyond
1
year
of
age
.
This
article
reports
a
case
of
Zellweger
syndrome
in
a
male
Native
American
infant
confirmed
by
clinical
findings
,
imaging
studies
,
and
biochemical
analysis
.
Genetic
studies
show
a
novel
mutation
(
c
.
3030
G
>
T
,
p
.
Glutamine
1010
Histidine
)
altering
the
last
nucleotide
of
exon
19
in
the
Peroxin
1
(
PEX
1
)
gene
.
Diseases
Validation
Diseases presenting
"typically present in the neonatal period with multiorgan involvement"
symptom
zellweger syndrome
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