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Inborn errors of metabolism: a cause of abnormal brain development.
[pyruvate dehydrogenase deficiency]
Brain
malformations
are
caused
by
a
disruption
in
the
sequence
of
normal
development
by
various
environmental
or
genetic
factors
.
By
modifying
the
intrauterine
milieu
,
inborn
errors
of
metabolism
may
cause
brain
dysgenesis
.
However
,
this
association
is
typically
described
in
single
case
reports
.
The
authors
review
the
relationship
between
brain
dysgenesis
and
specific
inborn
errors
of
metabolism
.
Peroxisomal
disorders
and
fatty
acid
oxidation
defects
can
produce
migration
defects
.
Pyruvate
dehydrogenase
deficiency
,
nonketotic
hyperglycinemia
,
and
maternal
phenylketonuria
preferentially
cause
a
dysgenetic
corpus
callosum
.
Abnormal
metabolism
of
folic
acid
causes
neural
tube
defects
,
whereas
defects
in
cholesterol
metabolism
may
produce
holoprosencephaly
.
Various
mechanisms
have
been
proposed
to
explain
abnormal
brain
development
in
inborn
errors
of
metabolism
:
production
of
a
toxic
or
energy-
deficient
intrauterine
milieu
,
modification
of
the
content
and
function
of
membranes
,
or
disturbance
of
the
normal
expression
of
intrauterine
genes
responsible
for
morphogenesis
.
The
recognition
of
a
metabolic
disorder
as
the
cause
of
the
brain
malformation
has
implications
for
both
the
care
of
the
patient
and
for
genetic
counseling
to
prevent
recurrence
in
subsequent
pregnancies
.
Diseases
Validation
Diseases presenting
"energy-deficient intrauterine milieu"
symptom
pyruvate dehydrogenase deficiency
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