Rare Diseases Symptoms Automatic Extraction
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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
.
Diseases
Validation
Diseases presenting
"late onset"
symptom
adrenomyeloneuropathy
cadasil
canavan disease
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
triple a syndrome
zellweger syndrome
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