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[Treatable hereditary neuro-metabolic diseases].
[pyruvate dehydrogenase deficiency]
Hereditary
metabolic
diseases
may
appear
during
adolescence
or
young
adulthood
,
revealed
by
an
apparently
unexplained
neurological
or
psychiatric
disorder
.
Certain
metabolic
diseases
respond
to
specific
treatments
and
should
be
identified
early
,
particularly
in
emergency
situations
where
rapid
introduction
of
a
treatment
can
avoid
fatal
outcome
or
irreversible
neurological
damage
.
The
main
diseases
leading
to
an
acute
neurological
syndrome
in
the
adult
are
urea
cycle
disorders
,
homocysteine
metabolisms
disorders
and
porphyria
.
More
rarely
,
Wilson
's
disease
,
aminoacid
diseases
,
organic
aciduria
,
or
pyruvate
dehydrogenase
deficiency
,
beta
-oxidation
disordes
or
biotin
metabolism
may
be
involved
.
Most
emergency
situations
can
be
screen
correctly
with
simple
tests
(
serum
ammonia
,
homocysteine
,
lactate
,
urinary
prophyrines
,
acylcarnitine
pattern
,
amino
acid
and
organic
acid
chromatography
)
.
For
chronic
situations
,
the
main
treatable
diseases
are
Wilson
's
disease
,
homocysteine
,
cerebrotendinous
xanthomatosis
,
Refsum
's
disease
,
vitamin
E
deficiency
,
Gaucher
's
disease
,
Fabry
's
disease
,
and
neurotransmitter
metabolism
disorders
.
We
present
treatable
metabolic
disorders
as
a
function
of
the
different
clinical
situations
observed
in
adults
.
Diseases
Validation
Diseases presenting
"specific treatments"
symptom
adrenomyeloneuropathy
neuralgic amyotrophy
primary effusion lymphoma
pyruvate dehydrogenase deficiency
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