Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
[pyruvate dehydrogenase deficiency]
We
report
a
case
of
neonatal
congenital
lactic
acidosis
associated
with
pyruvate
dehydrogenase
E
3
-
binding
protein
deficiency
in
a
newborn
girl
.
She
had
a
severe
encephalopathy
,
and
magnetic
resonance
imaging
of
the
brain
showed
large
subependymal
cysts
and
no
basal
ganglia
lesions
.
She
died
35
days
after
birth
.
We
detected
a
novel
homozygous
deletion
(
620
delC
)
in
the
PDX
1
gene
,
which
encodes
for
the
E
3
BP
subunit
of
the
pyruvate
dehydrogenase
complex
.
