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[Prenatal symptoms and diagnosis of inherited metabolic diseases].
[zellweger syndrome]
Inherited
metabolic
diseases
are
mostly
due
to
enzyme
deficiency
in
one
of
numerous
metabolic
pathways
,
leading
to
absence
of
a
compound
downstream
from
and
the
accumulation
of
a
compound
upstream
from
the
deficient
metabolite
(
s
)
.
Diseases
of
intoxication
by
proteins
(
aminoacidopathies
,
organic
acidurias
,
urea
cycle
defects
)
and
by
sugars
(
galactosemia
,
fructosemia
)
usually
do
not
give
prenatal
symptoms
since
mothers
protect
their
fetuses
from
pathological
metabolite
accumulation
.
A
well-known
exception
is
hypoplasia
of
corpus
callosum
,
as
is
sometimes
observed
in
nonketotic
hyperglycinemia
and
sulfite
oxidase
deficiency
.
Conversely
,
women
with
phenylketonuria
"
poison
"
their
fetus
if
they
are
not
treated
(
spontaneous
abortions
,
intrauterine
growth
restriction
[
IUGR
]
,
cardiac
malformations
,
and
brain
disease
)
.
Amino
acid
synthesis
defects
can
lead
to
prenatal
symptoms
:
microcephaly
in
serine
deficiency
(
detectable
by
amino
acid
analysis
in
fetal
cord
blood
)
,
and
brain
malformations
in
glutamine
synthetase
deficiency
.
Impaired
folate
metabolism
is
involved
in
a
large
fraction
of
neurodevelopmental
defects
referred
to
as
spina
bifida
,
yet
the
underlying
genetic
component
(
s
)
are
largely
unknown
.
Energy
metabolism
diseases
caused
by
defects
in
the
synthesis
or
utilization
of
relevant
metabolites
lead
to
organ
dysfunctions
or
malformations
,
but
prenatal
diagnosis
is
usually
impossible
unless
genetic
analysis
can
rely
on
a
previously
affected
child
in
the
family
.
A
somewhat
intermediate
condition
is
defects
of
mitochondrial
beta
-oxidation
of
fatty
acids
,
as
they
may
sometimes
be
symptomatic
prenatally
(
notably
the
HELLP
syndrome
or
other
presentations
)
,
and
in
this
case
,
organic
acid
and
acylcarnitine
analysis
in
amniotic
fluid
can
be
informative
in
the
absence
of
an
index
case
.
In
contrast
,
complex
molecule
diseases
commonly
give
prenatal
symptoms
that
may
permit
the
diagnosis
even
in
the
absence
of
index
cases
:
hydrops
fetalis
and
skeletal
anomalies
in
lysosomal
storage
diseases
,
hydrops
fetalis
in
congenital
disorders
of
glycosylation
(
CDG
)
and
transaldolase
deficiency
,
brain
malformations
in
O-
glycosylation
defects
,
brain
malformations
,
kidney
cysts
and
skeletal
anomalies
in
peroxysomal
diseases
(
Zellweger
syndrome
)
,
syndactyly
,
genitalia
malformations
,
and
IUGR
in
Smith-
Lemli-
Opitz
(
SLO
)
syndrome
.
Although
many
metabolic
disorders
show
biochemical
abnormalities
during
fetal
development
that
are
informative
for
prenatal
diagnosis
,
only
a
fraction
of
them
are
clinically
/
sonographically
symptomatic
before
birth
,
thus
allowing
for
prenatal
diagnosis
in
the
absence
of
an
index
case
,
i
.
e
.
,
serine
deficiency
,
some
fatty
acid
beta
-oxidation
defects
,
transaldolase
deficiency
,
lysosomal
diseases
,
CDG
,
Zellweger
syndrome
,
and
SLO
syndrome
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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