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Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
[pyruvate dehydrogenase deficiency]
The
pyruvate
dehydrogenase
complex
(
PDHc
)
is
an
intramitochondrial
multienzyme
system
,
which
plays
a
key
role
in
aerobic
glucose
metabolism
by
catalysing
the
oxidative
decarboxylation
of
pyruvate
to
acetyl-
CoA
.
Genetic
defects
in
the
PDHc
lead
to
lactic
acidemia
and
neurological
abnormalities
.
In
the
majority
of
the
cases
,
the
defect
appears
to
reside
in
the
E
(
1
)
alpha
subunit
,
the
first
catalytic
component
of
the
complex
.
The
report
is
on
a
6
-
year
-old
Portuguese
boy
with
mild
neurological
involvement
and
low
PDHc
activity
with
absence
of
E
1
alpha
on
immunoblotting
analysis
.
Molecular
studies
showed
a
novel
and
"
de
novo
"
mutation
in
the
PDHA
1
gene
,
R
253
G
.
Treatment
with
arginine
aspartate
showed
complete
clinical
and
biochemical
recovery
.
We
hypothesise
that
arginine
aspartate
acts
as
a
chemical
or
pharmacological
chaperone
,
and
suggest
amino
acid
supplementation
as
a
possible
therapy
in
PDHA
1
mutations
with
mild
phenotypes
.
our
results
encourage
the
use
of
amino
acid
supplementation
to
overcome
the
metabolic
/
biochemical
changes
induced
by
PDHA
1
gene
specific
mutations
associated
with
mild
PDHc
phenotypes
.
Diseases
Validation
Diseases presenting
"mild phenotypes"
symptom
holt-oram syndrome
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
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