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Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
[pyruvate dehydrogenase deficiency]
Although
the
blood
lactate-
to
-pyruvate
(
L
:
P
)
molar
ratio
is
used
to
distinguish
between
pyruvate
dehydrogenase
deficiency
(
PDH
-D
)
and
other
causes
of
congenital
lactic
acidosis
(
CLA
)
,
its
diagnostic
accuracy
for
differentiating
between
these
2
types
of
CLA
has
not
been
evaluated
formally
.
We
conducted
a
retrospective
study
of
all
patients
followed
for
mitochondrial
diseases
between
1985
and
2005
in
a
tertiary
care
pediatric
hospital
.
At
the
recommended
cut
point
of
approximately
25
,
individual
median
L
:
P
ratio
demonstrated
low
sensitivity
and
specificity
(
77
%
and
91
%
,
respectively
)
for
differentiating
between
patients
with
enzymatically
proven
PDH
-D
(
n
=
11
)
and
those
with
mitochondrial
disease
but
normal
pyruvate
dehydrogenase
(
PDH
)
activity
(
non-
PDH
;
n
=
35
)
.
We
observed
a
strong
positive
association
between
L
:
P
ratio
and
blood
lactate
in
non-
PDH
CLA
,
whereas
this
association
was
weak
in
PDH
-D
CLA
.
Consequently
,
patient
classification
based
on
median
L
:
P
ratio
showed
improved
diagnostic
accuracy
at
higher
lactate
concentrations
:
for
lactate
<
2
.
5
mmol
/
L
the
area
under
the
ROC
curve
was
not
statistically
different
from
0
.
5
(
P
=
0
.
3
)
,
whereas
it
was
statistically
different
for
lactate
>
2
.
5
mmol
/
L
.
In
the
2
.
5
to
5
.
0
mmol
/
L
lactate
category
,
the
sensitivity
and
specificity
at
an
optimal
cut
point
of
18
.
4
were
93
%
(
95
%
CI
,
77
%
-
99
%
)
and
71
%
(
95
%
CI
,
20
%
-
96
%
)
,
respectively
;
for
lactate
>
5
.
0
mmol
/
L
,
with
an
optimal
cut
point
of
25
.
8
,
sensitivity
and
specificity
were
96
%
(
95
%
CI
,
77
%
-
99
%
)
and
100
%
(
95
%
CI
,
59
%
-
100
%
)
,
respectively
.
Usefulness
of
the
L
:
P
ratio
for
differentiating
non-
PDH
and
PDH
-D
types
of
CLA
increases
at
higher
lactate
concentrations
.
Diseases
Validation
Diseases presenting
"mitochondrial diseases"
symptom
cadasil
pyruvate dehydrogenase deficiency
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