Rare Diseases Symptoms Automatic Extraction
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Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
[pyruvate dehydrogenase deficiency]
Lipoic
acid
metabolism
defects
are
new
metabolic
disorders
that
cause
neurological
,
cardiomuscular
or
pulmonary
impairment
.
We
report
on
a
patient
that
presented
with
progressive
neurological
regression
suggestive
of
an
energetic
disease
,
involving
leukoencephalopathy
with
cysts
.
Elevated
levels
of
glycine
in
plasma
,
urine
and
CSF
associated
with
intermittent
increases
of
lactate
were
consistent
with
a
defect
in
lipoic
acid
metabolism
.
Support
for
the
diagnosis
was
provided
by
pyruvate
dehydrogenase
deficiency
and
multiple
mitochondrial
respiratory
chain
deficiency
in
skin
fibroblasts
,
as
well
as
no
lipoylated
protein
by
western
blot
.
Two
mutations
in
the
NFU
1
gene
confirmed
the
diagnosis
.
The
p
.
Gly
208
Cys
mutation
has
previously
been
reported
suggesting
a
founder
effect
in
Europe
.