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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
[pyruvate dehydrogenase deficiency]
The
aim
of
this
study
is
to
report
and
emphasize
unusual
presentations
of
pyruvate
dehydrogenase
(
PDH
)
deficiency
(
OMIM
312170
)
.
PDH
activity
and
PDHA
1
gene
were
studied
in
two
siblings
presenting
with
intermittent
ataxia
in
childhood
.
Similar
presentations
in
reported
PDH
-
deficient
patients
were
searched
for
using
the
Medline
database
.
Both
patients
had
PDH
deficiency
caused
by
a
new
mutation
(
G
585
C
)
in
the
PDHA
1
gene
,
which
is
predicted
to
replace
a
highly
conserved
glycine
at
codon
195
by
alanine
.
Although
this
mutation
lies
within
the
thiamine
pyrophosphate
binding
domain
,
there
was
no
thiamine
responsiveness
IN
VIVO
.
The
patients
presented
recurrent
episodes
of
acute
isolated
ataxia
in
infancy
.
Both
had
normal
blood
and
CSF
lactate
levels
.
Although
symptoms
initially
resolved
between
episodes
during
the
first
decade
,
both
patients
subsequently
worsened
and
developed
progressive
and
severe
encephalopathy
,
leading
to
death
in
their
twenties
.
The
spectrum
of
intermittent
presentations
in
PDH
deficiency
includes
episodic
ataxia
,
intermittent
peripheral
weakness
,
recurrent
dystonia
and
extrapyramidal
movement
disorders
.
PDH
deficiency
should
be
considered
in
patients
with
unexplained
intermittent
and
recurrent
acute
neurological
symptoms
.
Long
-term
prognosis
and
outcome
remain
uncertain
.
PDH
deficiency
can
occur
even
with
normal
CSF
lactate
concentration
.
Diseases
Validation
Diseases presenting
"a new mutation"
symptom
pyruvate dehydrogenase deficiency
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