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Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.
[neonatal adrenoleukodystrophy]
Neonatal
adrenoleukodystrophy
constitutes
a
distinct
genetic
disorder
of
autosomal
recessive
inheritance
,
and
is
distinguishable
from
the
cerebro-hepato-
renal
syndrome
of
Zellweger
and
X-
linked
juvenile
adrenoleukodystrophy
,
although
all
three
conditions
store
very
long
chain
fatty
acids
.
Abnormal
clinical
features
in
neonatal
adrenoleukodystrophy
are
generally
present
at
birth
,
and
include
muscle
hypotonia
,
severe
psychomotor
retardation
,
and
failure
to
thrive
.
These
infants
are
generally
blind
and
deaf
,
with
seizures
developing
during
their
first
few
weeks
.
A
retinopathic
"
leopard
spot
"
is
common
,
and
should
help
identify
this
disorder
.
The
brains
of
four
infants
who
died
of
neonatal
adrenoleukodystrophy
were
biochemically
analyzed
for
complex
lipids
,
including
cholesterol
,
cholesterol
esters
,
total
phospholipids
,
total
galactolipids
,
and
gangliosides
.
Additional
analyses
included
the
separation
and
identification
of
very
long
chain
fatty
acids
and
various
forms
of
brain
plasmalogen
.
Analyses
of
brains
with
neonatal
adrenoleukodystrophy
revealed
the
chemical
identification
of
at
least
two
stored
lipid
products
.
Very
long
chain
fatty
acids
are
present
,
especially
in
cholesterol
esters
,
and
vinyl
ether
ethanolamine
plasmalogens
are
markedly
elevated
.
The
storage
of
vinyl
ether
plasmalogen
in
brains
of
infants
dying
of
neonatal
adrenoleukodystrophy
clearly
distinguishes
them
from
those
with
cerebro-hepato-
renal
syndrome
of
Zellweger
,
which
fail
to
synthesize
plasmalogens
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated