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Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
[pyruvate dehydrogenase deficiency]
Pyruvate
dehydrogenase
deficiency
is
an
important
cause
of
primary
lactic
acidosis
.
Most
cases
occur
as
a
result
of
mutations
in
the
gene
for
the
E
1
alpha
subunit
of
the
complex
,
with
a
small
number
resulting
from
mutations
in
genes
for
other
components
,
most
commonly
the
E
3
and
E
3
-
binding
protein
subunits
.
We
describe
pyruvate
dehydrogenase
E
3
-
binding
protein
deficiency
in
two
siblings
in
each
of
two
unrelated
families
from
Kuwait
.
The
index
patient
in
each
family
had
reduced
pyruvate
dehydrogenase
activity
in
cultured
fibroblasts
and
no
detectable
immunoreactive
E
3
-
binding
protein
.
Both
were
homozygous
for
nonsense
mutations
in
the
E
3
-
binding
protein
gene
,
one
involving
the
codon
for
glutamine
266
,
the
other
the
codon
for
tryptophan
5
.
Diseases
Validation
Diseases presenting
"no detectable immunoreactive e3"
symptom
pyruvate dehydrogenase deficiency
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