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Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
[pyruvate dehydrogenase deficiency]
Fibroblast
cultures
from
five
patients
with
early
onset
severe
encephalopathy
and
lactic
acidosis
were
studied
for
evidence
of
pyruvate
dehydrogenase
(
PDH
)
deficiency
.
Three
males
had
significantly
reduced
activity
(
0
.
29
-
0
.
45
nmol
/
mg
protein
/
min
versus
normal
controls
0
.
7
-
1
.
1
nmol
/
mg
protein
/
min
)
;
two
females
had
PDH
activity
within
the
normal
range
.
However
,
as
the
majority
of
cases
of
PDH
deficiency
result
from
defects
in
the
X-
linked
E
1
alpha
subunit
and
both
females
had
biased
patterns
of
X-
inactivation
(
making
it
impossible
to
rule
out
the
possibility
that
they
were
heterozygous
for
an
E
1
alpha
gene
defect
)
molecular
genetic
studies
were
performed
.
cDNA
from
the
male
patients
was
sequenced
and
mis-sense
mutations
found
:
Y
243
N
(
T
--
>
A
)
in
exon
7
,
D
315
A
(
G--
>
A
)
in
exon
10
and
R
378
H
(
G--
>
A
)
in
exon
11
.
Single
-strand
conformation
polymorphism
analysis
of
amplified
genomic
DNA
fragments
and
sequencing
revealed
a
mis-sense
mutation
M
282
L
(
A--
>
C
)
in
one
female
and
a
frameshift
mutation
caused
by
insertion
of
T
(
R
288
ins
)
in
the
other
.
Adding
to
recent
descriptions
of
new
mutations
,
this
report
emphasizes
the
allelic
heterogeneity
of
the
condition
.
The
identification
of
mutations
in
females
with
a
suggestive
clinical
phenotype
,
even
when
peripheral
fibroblasts
do
not
show
deficient
PDH
activity
,
illustrates
the
importance
of
molecular
analysis
of
this
disease
.
Diseases
Validation
Diseases presenting
"even when peripheral fibroblasts do not show deficient pdh activity"
symptom
pyruvate dehydrogenase deficiency
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