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In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
[pyruvate dehydrogenase deficiency]
We
present
a
unique
finding
of
an
elevated
level
of
pyruvate
at
2
.
37
ppm
revealed
by
in
vivo
MR
spectroscopy
of
a
female
neonate
.
Low
fibroblast
pyruvate
dehydrogenase
(
PDH
)
complex
activity
subsequently
confirmed
a
diagnosis
of
PDH
deficiency
.
Abnormalities
of
brain
development
consistent
with
PDH
deficiency
were
also
evident
on
fetal
and
postnatal
MR
images
.
To
our
knowledge
,
this
is
the
first
report
of
pyruvate
being
shown
in
vivo
in
a
child
and
the
first
report
of
MR
spectroscopy
aiding
in
the
diagnosis
of
inborn
error
in
pyruvate
metabolism
before
confirmation
by
conventional
enzymatic
testing
.
This
finding
has
potential
implications
for
earlier
diagnosis
in
patients
with
defects
in
mitochondrial
metabolism
.
Diseases
Validation
Diseases presenting
"elevated level"
symptom
cutaneous mastocytosis
dentinogenesis imperfecta
familial hypocalciuric hypercalcemia
focal myositis
pyruvate dehydrogenase deficiency
scrub typhus
zellweger syndrome
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