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Impact of selected inborn errors of metabolism on prenatal and neonatal development.
[pyruvate dehydrogenase deficiency]
In
general
,
data
regarding
maturational
processes
of
different
metabolic
pathways
in
the
very
vulnerable
fetal
and
neonatal
period
are
rare
.
This
review
is
to
substantiate
the
impact
of
selected
inborn
errors
of
metabolism
on
this
critical
period
of
life
and
their
clinical
manifestation
.
Significant
adaptation
of
mitochondrial
/
energy-
,
carbohydrate-
,
lysosomal-
,
and
amino
acid-metabolism
occurs
during
early
prenatal
and
neonatal
development
.
In
utero
,
metabolic
environment
has
an
impact
on
the
development
of
the
fetus
as
well
as
fetal
organ
maturation
.
Defects
of
distinct
metabolic
pathways
could
therefore
already
be
of
significant
relevance
in
utero
and
for
clinical
manifestations
in
the
early
fetal
and
neonatal
period
.
Disturbances
of
these
pathways
may
influence
intrauterine
growth
and
health
.
Production
of
a
toxic
intrauterine
milieu
,
energy-
deficiency
,
modification
of
membrane
function
,
or
disturbance
of
the
normal
intrauterine
expression
of
genes
may
be
responsible
for
fetal
compromise
and
developmental
disorders
.
Three
categories
of
metabolic
disorders
will
be
discussed
:
the
"
intoxication
type
"
(
classical
galactosemia
,
ornithine
transcarbamylase
deficiency
,
and
"
maternal
phenylketonuria
"
)
,
the
"
storage
type
"
(
Morbus
Niemann
Pick
type
C
)
,
and
the
"
energy
deficient
type
"
(
including
long
-chain
fatty
acid
oxidation
disorders
,
pyruvate
dehydrogenase
deficiency
,
and
respiratory
chain
defects
)
.
For
these
disorders
,
the
pathophysiology
of
early
manifestation
,
special
aspects
regarding
the
prenatal
and
neonatal
period
,
and
diagnostic
as
well
as
therapeutic
options
are
presented
.
Diseases
Validation
Diseases presenting
"selected inborn errors of metabolism on this critical period"
symptom
pyruvate dehydrogenase deficiency
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