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DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
[pyruvate dehydrogenase deficiency]
The
diagnosis
of
pyruvate
dehydrogenase
(
PDH
)
E
1
alpha
deficiency
,
which
is
an
X-
linked
inborn
error
of
metabolism
,
is
usually
established
by
the
measurement
of
PDH
complex
activity
in
cultured
cells
.
However
,
heterozygous
female
patients
with
PDH
E
1
alpha
deficiency
may
be
misdiagnosed
when
the
normal
X
chromosome
is
predominantly
expressed
in
the
cultured
cells
.
Therefore
,
in
female
patients
with
convincing
clinical
presentations
of
PDH
E
1
alpha
deficiency
and
the
normal
enzyme
activity
,
the
X-
inactivation
pattern
should
be
analysed
and
the
PDH
E
1
alpha
gene
screened
for
mutations
.
For
this
screening
,
we
applied
the
method
of
single
-strand
conformational
polymorphism
(
SSCP
)
and
DNA
sequencing
and
examined
11
female
patients
with
congenital
lactic
acidaemia
whose
PDH
complex
activity
was
normal
in
cultured
cells
.
In
2
of
the
11
female
patients
,
we
found
distinct
pathogenic
missense
mutations
in
the
PDH
E
1
alpha
gene
(
G
8
9
S
and
G
291
R
)
.
Both
affected
patients
showed
a
similar
clinical
presentation
and
had
been
diagnosed
as
West
syndrome
.
In
3
of
the
11
patients
,
we
found
a
polymorphic
base-pair
substitution
in
exon
9
of
the
PDH
E
1
alpha
gene
which
resulted
in
a
changed
amino
acid
residue
(
M
282
L
)
.
We
conclude
that
PCR-SSCP
analysis
of
the
PDH
E
1
alpha
gene
,
followed
by
DNA
sequencing
,
is
a
useful
method
to
screen
for
mutations
of
the
PDH
E
1
alpha
gene
in
female
patients
with
congenital
lactic
acidaemia
who
have
normal
enzyme
activities
in
available
samples
,
normal
ratio
of
lactate
to
pyruvate
,
and
predominantly
raised
lactate
concentration
in
cerebrospinal
fluid
.
Diseases
Validation
Diseases presenting
"convincing clinical presentations"
symptom
pyruvate dehydrogenase deficiency
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