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Females with PDHA1 gene mutations: a diagnostic challenge.
[pyruvate dehydrogenase deficiency]
Biochemical
analysis
was
performed
in
muscle
tissue
and
in
fibroblasts
of
four
unrelated
females
consecutively
diagnosed
with
a
'
de
novo
'
point
mutation
in
the
PDHA
1
gene
.
Pyruvate
dehydrogenase
E
1
subunit
deficiency
was
confirmed
in
the
muscle
sample
of
all
patients
,
however
,
in
three
out
of
four
cases
the
activity
of
the
pyruvate
dehydrogenase
complex
in
fibroblasts
showed
a
normal
activity
.
A
skewed
inactivation
was
confirmed
of
the
maternal
X
chromosome
in
fibroblasts
in
all
children
.
Due
to
the
possibility
of
a
skewed
X
inactivation
pattern
enzyme
measurements
in
fibroblasts
are
not
always
reliable
for
the
diagnosis
of
a
PDHc
defect
in
females
.
Based
on
the
overlapping
features
of
PDHc
deficiency
with
those
of
the
disorders
of
the
oxidative
phosphorylation
we
suggest
performing
a
fresh
muscle
biopsy
for
detailed
biochemical
analysis
in
females
with
a
suspected
pyruvate
dehydrogenase
deficiency
,
followed
by
molecular
genetic
analysis
of
the
PDHA
1
gene
.
Diseases
Validation
Diseases presenting
"detailed biochemical analysis in females"
symptom
pyruvate dehydrogenase deficiency
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