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A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
[pyruvate dehydrogenase deficiency]
In
a
patient
with
fatal
neonatal
lactic
acidosis
due
to
pyruvate
dehydrogenase
deficiency
,
the
only
potential
mutation
detected
was
c
.
888
C
>
G
in
PDHA
1
,
the
gene
for
the
E
1
alpha
subunit
of
the
complex
.
This
would
result
in
a
substitution
of
glutamate
for
aspartate
(
D
296
E
)
.
Pathogenicity
of
this
minor
alteration
in
amino
acid
sequence
was
demonstrated
by
expression
studies
.
By
comparing
the
mutant
sequence
with
the
known
structures
of
the
E
1
components
of
pyruvate
dehydrogenase
and
the
closely
related
branched
chain
alpha-ketoacid
dehydrogenase
,
an
explanation
for
the
profound
consequences
of
the
mutation
can
be
proposed
.
