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Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
[pyruvate dehydrogenase deficiency]
Pyruvate
dehydrogenase
complex
(
PDHC
)
is
an
intramitochondrial
multienzyme
complex
essential
for
the
aerobic
oxidation
of
glucose
.
The
majority
of
patients
with
PDHC
deficiency
have
abnormalities
in
the
major
catalytic
and
regulatory
subunit
,
E
1
alpha
,
which
is
encoded
on
the
X
chromosome
.
The
clinical
spectrum
of
PDHC
deficiency
is
heterogeneous
,
particularly
in
heterozygous
females
,
and
diagnosis
may
be
difficult
.
Three
affected
infant
girls
with
PDHC
deficiency
were
investigated
.
All
had
dysmorphic
features
,
microcephaly
with
profound
global
developmental
delay
,
and
hypotonia
.
Systemic
acidosis
was
absent
,
although
serum
lactate
and
pyruvate
were
abnormally
elevated
.
Magnetic
resonance
imaging
revealed
hypoplasia
of
the
corpus
callosum
in
all
patients
.
Proton
magnetic
resonance
spectroscopy
of
brain
revealed
large
increases
in
relative
signal
intensities
for
lactic
acid
and
decreases
in
the
relative
signal
intensities
of
N-
acetylaspartate
,
a
marker
of
neuronal
damage
or
less
.
Phosphorus
MRS
of
muscle
revealed
abnormally
low
phosphorylation
potentials
for
all
these
patients
,
although
the
degree
of
abnormality
was
variable
and
not
directly
correlated
with
the
amount
of
brain
lactate
.
It
is
proposed
that
cerebral
dysgenesis
and
cerebral
lactic
acidemia
as
shown
by
magnetic
resonance
imaging
and
proton
magnetic
resonance
spectroscopy
are
useful
diagnostic
clues
to
PDHC
deficiency
,
particularly
in
females
in
whom
variable
patterns
of
X-
inactivation
reduce
sensitivity
of
laboratory
diagnosis
based
on
the
biochemical
studies
of
peripheral
tissues
.
In
addition
,
muscle
bioenergetic
abnormalities
in
conjunction
with
CNS
dysfunction
may
contribute
to
profound
hypotonia
in
this
disorder
.
Diseases
Validation
Diseases presenting
"hypoplasia of the corpus callosum in all patients"
symptom
pyruvate dehydrogenase deficiency
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