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Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
[pyruvate dehydrogenase deficiency]
Maple
syrup
urine
disease
(
MSUD
;
OMIM
248600
)
results
from
an
inherited
deficiency
of
the
branched-chain
ketoacid
dehydrogenase
(
BCKD
)
complex
.
Approximately
20
%
of
patients
with
BCKD
deficiency
are
non-classic
variants
of
MSUD
with
differing
clinical
severity
.
Outcomes
for
this
cohort
are
generally
favourable
;
episodes
of
metabolic
decompensation
do
not
appear
to
correlate
with
adverse
events
if
acute
management
is
promptly
provided
.
A
case
of
predominantly
axonal
sensory
-
motor
neuropathy
following
metabolic
decompensation
which
persisted
for
a
number
of
months
is
presented
in
an
adolescent
girl
with
variant
(
intermediate
type
)
MSUD
.
EMG
and
nerve
conduction
studies
suggested
a
pre-existent
asymptomatic
chronic
neuropathy
,
exacerbated
by
the
acute
decompensation
.
Peak
leucine
concentration
at
decompensation
was
1083
μmol
/
L
.
The
patient
had
laboratory
signs
of
secondary
mitochondrial
respiratory
chain
dysfunction
at
presentation
.
She
had
been
on
a
moderate
dose
of
thiamine
prior
to
decompensation
;
thiamine
and
pyridoxine
blood
concentrations
were
normal
.
This
,
to
our
knowledge
,
is
the
first
report
of
a
neuropathy
presenting
in
a
patient
with
a
decompensation
of
variant
MSUD
.
We
propose
that
this
presentation
resembles
the
intermittent
neuropathy
observed
in
pyruvate
dehydrogenase
deficiency
and
may
reflect
secondary
inhibition
of
pyruvate
dehydrogenase
activity
by
MSUD
metabolites
.
