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Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
[pyruvate dehydrogenase deficiency]
Pyruvate
dehydrogenase
deficiency
is
one
of
the
genetic
defects
of
mitochondrial
energy
metabolism
.
Clinical
features
are
heterogeneous
,
ranging
from
fatal
lactic
acidosis
in
the
newborn
period
to
chronic
neurodegenerative
abnormalities
.
Most
cases
have
mutations
in
the
gene
for
the
E
1
alpha
subunit
of
the
pyruvate
dehydrogenase
complex
.
Primary
defects
of
the
E
3
binding
protein
component
of
the
pyruvate
dehydrogenase
complex
are
rarier
.
We
describe
two
unrelated
Moroccan
patients
with
the
same
new
mutation
c
.
1182
Â
+
Â
2
T
Â
>
Â
C
in
the
E
3
binding
protein
gene
PDHX
and
different
clinical
forms
.
Diseases
Validation
Diseases presenting
"primary defects of the e3 binding protein component of the pyruvate dehydrogenase"
symptom
pyruvate dehydrogenase deficiency
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