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Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
[neonatal adrenoleukodystrophy]
The
peroxisome
biogenesis
disorders
(
PBDs
)
with
generalized
peroxisomal
dysfunction
include
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
and
infantile
Refsum
disease
(
IRD
)
.
There
is
clinical
,
biochemical
,
and
genetic
overlap
among
the
three
phenotypes
,
also
known
as
Zellweger
spectrum
disorders
.
Clinical
distinctions
between
the
phenotypes
are
not
sharply
defined
.
Only
limited
sources
are
available
to
serve
as
a
background
for
prognosis
in
PBD
,
especially
in
case
of
prolonged
survival
.
We
delineated
the
natural
history
of
31
PBD
patients
(
age
1
.
2
-
24
years
)
through
systematic
clinical
and
biochemical
investigations
.
We
excluded
classical
ZS
from
our
study
,
and
included
all
patients
with
a
biochemically
confirmed
generalized
peroxisomal
disorder
over
1
year
of
age
,
irrespective
of
the
previously
diagnosed
phenotype
.
The
initial
clinical
suspicion
,
age
at
diagnosis
,
growth
,
development
,
neurological
symptoms
,
organ
involvements
,
and
survival
are
summarized
.
Common
to
all
patients
were
cognitive
and
motor
dysfunction
,
retinopathy
,
sensorineural
hearing
impairment
,
and
hepatic
involvement
.
Many
patients
showed
postnatal
growth
failure
,
10
patients
displayed
hyperoxaluria
of
whom
4
had
renal
stones
.
Motor
skills
ranged
from
sitting
with
support
to
normal
gait
.
Speech
development
ranged
from
non-verbal
expression
to
grammatical
speech
and
comprehensive
reading
.
The
neurodevelopmental
course
was
variable
with
stable
course
,
rapid
decline
with
leukodystrophy
,
spinocerebellar
syndrome
,
and
slow
decline
over
a
wide
range
of
faculties
as
outcome
profiles
.
At
the
molecular
level
,
21
patients
had
mutations
in
the
PEX
1
gene
.
The
two
most
common
PEX
1
mutations
were
the
G
8
43
D
(
c
.
2528
G--
>
A
)
missense
and
the
c
.
2097
insT
frameshift
mutation
.
Patients
having
the
G
8
43
D
/
G
8
43
D
or
the
G
8
43
D
/
c
.
2097
insT
genotypes
were
compared
.
Patients
homozygous
for
G
8
43
D
generally
had
a
better
developmental
outcome
.
However
,
one
patient
who
was
homozygous
for
the
"
mild
"
G
8
43
D
mutation
had
an
early
lethal
disease
,
whereas
two
other
patients
had
a
phenotype
overlapping
with
the
G
8
43
D
/
c
.
2097
insT
group
.
This
indicates
that
next
to
the
PEX
1
genotype
other
yet
unknown
factors
determine
the
ultimate
phenotype
.
Diseases
Validation
Diseases presenting
"10 patients displayed hyperoxaluria of whom 4 had renal stones"
symptom
neonatal adrenoleukodystrophy
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