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[Pyruvate dehydrogenase deficiency and cerebral malformations].
[pyruvate dehydrogenase deficiency]
Pyruvate
dehydrogenase
(
PDH
)
deficiency
is
a
major
cause
of
primary
lactic
acidosis
and
severe
global
developmental
delay
.
A
deficiency
of
PDH
E
1
alpha
,
a
subunit
of
the
PDH
complex
is
a
prominent
cause
of
congenital
lactic
acidosis
.
The
E
1
alpha
cDNA
and
corresponding
genomic
DNA
have
been
located
in
the
short
arm
of
the
X-
chromosome
(
Xp
22
-
1
)
.
A
isolated
'
cerebral
'
lactic
acidosis
with
cerebral
dysgenesis
is
a
recognized
pattern
of
presentation
of
PDH
deficiency
.
Here
,
we
report
clinical
features
,
magnetic
resonance
,
and
biochemical
studies
of
two
females
aged
6
months
(
case
1
)
and
26
months
(
case
2
)
.
Both
had
severe
development
delay
,
minor
dysmorphic
features
,
microcephaly
,
severe
hypoplasia
of
the
corpus
callosum
,
cerebral
atrophy
,
ventricular
dilatation
and
increase
in
serum
lactate
levels
without
systemic
acidosis
.
Urinary
organic
acid
profile
was
compatible
with
PDH
deficiency
.
Increased
CSF
lactate
and
pyruvate
levels
and
reduced
total
PDH
and
PDH
E
1
activities
in
muscle
and
fibroblasts
were
observed
in
case
1
.
Otherwise
,
decreased
total
PDH
activity
in
muscle
but
not
in
fibroblasts
was
seen
in
case
2
.
The
PDH
E
1
á
gene
was
sequenced
in
the
case
1
and
a
deletion
in
exon
7
was
demonstrated
.
Dysmorphism
with
severe
cerebral
malformations
in
female
patients
merits
a
metabolic
evaluation
,
including
determination
of
lactate
and
pyruvate
levels
in
CSF
.
Diseases
Validation
Diseases presenting
"increased csf lactate"
symptom
pyruvate dehydrogenase deficiency
This symptom has already been validated
