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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
"glutamine synthetase deficiency"
symptom
zellweger syndrome
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