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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
"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