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
.
Diseases
Validation
Diseases presenting
"spasticity"
symptom
adrenomyeloneuropathy
alexander disease
congenital toxoplasmosis
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated