Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
[pyruvate dehydrogenase deficiency]
The
most
common
cause
of
pyruvate
dehydrogenase
complex
(
PDHc
)
deficiency
is
the
deficit
of
the
E
1
α-subunit
.
The
aim
of
this
study
was
to
describe
distinct
course
of
the
disease
in
two
boys
with
mutations
in
PDHA
1
gene
and
illustrate
the
possible
obstacles
in
measurement
of
PDHc
activity
.
Clinical
data
and
metabolic
profiles
were
collected
and
evaluated
.
PDHc
and
E
1
α-subunit
activities
were
measured
using
radiometric
assay
.
Subunits
of
PDHc
were
detected
by
Western
blot
.
PDHA
1
gene
was
analysed
by
direct
sequencing
.
In
patient
1
,
the
initial
hypotonia
with
psychomotor
retardation
was
observed
since
early
infancy
.
The
child
gradually
showed
symptoms
of
spasticity
and
arrest
of
psychomotor
development
.
In
patient
2
,
the
disease
manifested
by
seizures
and
hyporeflexia
in
the
toddler
age
.
The
diagnosis
was
confirmed
at
the
age
of
seven
years
after
attacks
of
dystonia
and
clinical
manifestation
of
myopathy
with
normal
mental
development
.
Brain
MRI
of
both
patients
revealed
lesions
typical
of
Leigh
syndrome
.
Enzymatic
analyses
revealed
PDHc
deficiency
in
isolated
lymphocytes
in
the
first
but
not
in
the
second
patient
.
The
direct
measurement
of
PDH
E
1
-
subunit
revealed
deficiency
in
this
individual
.
In
patient
1
,
a
novel
hemizigous
mutation
c
.
857
C
>
T
(
Pro
250
L
eu
)
was
detected
in
the
X-
linked
PDHA
1
gene
.
Mutation
c
.
367
C
>
T
(
Arg
88
C
ys
)
was
found
in
patient
2
.
We
present
first
two
patients
with
PDHc
deficit
due
to
mutations
in
PDHA
1
gene
in
the
Czech
Republic
.
We
document
the
broad
variability
of
clinical
symptoms
of
this
disease
.
We
proved
that
normal
PDHc
activity
may
not
exclude
the
disease
.
