Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Identification of a novel PEX14 mutation in Zellweger syndrome.
[zellweger syndrome]
Here
we
report
a
patient
with
Zellweger
syndrome
,
who
presented
at
the
age
of
3
months
with
icterus
,
dystrophy
,
axial
hypotonia
,
and
hepatomegaly
.
Abnormal
findings
of
metabolic
screening
tests
included
hyperbilirubinaemia
,
hypoketotic
dicarboxylic
aciduria
,
increased
C
(
26
:
0
)
and
decreased
C
(
22
:
0
)
plasma
levels
,
and
strongly
reduced
plasmalogen
concentrations
.
In
fibroblasts
,
both
peroxisomal
α-
and
β-oxidation
were
impaired
.
Liver
histology
revealed
bile
duct
paucity
,
cholestasis
,
arterial
hyperplasia
,
very
small
branches
of
the
vena
portae
,
and
parenchymatic
destruction
.
Immunocytochemical
analysis
of
cultured
fibroblasts
demonstrated
that
the
cells
contain
peroxisomal
remnants
lacking
apparent
matrix
protein
content
and
PEX
14
,
a
central
membrane
component
of
the
peroxisomal
matrix
protein
import
machinery
.
Transfection
of
fibroblasts
with
a
plasmid
coding
for
wild-
type
PEX
14
restored
peroxisomal
matrix
protein
import
.
Mutational
analysis
of
this
gene
revealed
a
genomic
deletion
leading
to
the
deletion
of
exon
3
from
the
coding
DNA
(
c
.
85
-
?
_
170
+
?
del
)
and
a
concomitant
change
of
the
reading
frame
(
p
.
[
Ile
29
_
Lys
56
del
;
Gly
57
GlyfsX
2
]
)
.
Diseases
Validation
Diseases presenting
"abnormal findings"
symptom
cadasil
familial mediterranean fever
focal myositis
lymphangioleiomyomatosis
malignant atrophic papulosis
phenylketonuria
sneddon syndrome
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom