Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Contribution of CSF analysis to the diagnosis of inborn errors of metabolism in adult patients].
[pyruvate dehydrogenase deficiency]
The
diagnosis
of
certain
metabolic
diseases
is
problematic
because
it
can
not
be
achieved
with
conventional
blood
and
urine
analyses
but
requires
cerebrospinal
fluid
(
CSF
)
study
.
CSF
analysis
is
essential
for
the
diagnosis
of
neurotransmitter
metabolic
disorders
(
synthesis
defects
of
biogenic
monoamines
,
non
ketotic
hyperglycinemia
and
homocarsinosis
)
,
defects
of
specific
transporters
(
glucose
cerebral
transporter
(
Glut
1
)
deficiency
and
cerebral
folate
deficiency
)
and
is
of
help
for
the
diagnosis
of
disorders
of
cerebral
energy
metabolism
(
respiratory
chain
disorders
and
pyruvate
dehydrogenase
deficiency
)
.
Our
goal
is
to
give
an
outline
of
hereditary
metabolic
diseases
whose
diagnosis
is
based
on
CSF
analysis
.
We
will
detail
late
onset
clinical
forms
which
may
be
first
seen
in
an
adult
neurology
department
.
