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Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
aciduria
and
homocystinuria
cobalamin
C
type
(
cobalamin
C
disease
)
is
an
inborn
metabolic
disorder
consisting
of
an
impaired
intracellular
synthesis
of
the
2
active
forms
of
vitamin
B
12
(
cobalamin
)
,
namely
,
adenosylcobalamin
and
methylcobalamin
,
that
results
in
increased
levels
of
methylmalonic
acid
and
homocysteine
in
the
blood
and
urine
.
Most
patients
present
in
the
first
year
of
life
with
systemic
,
hematological
,
and
neurological
abnormalities
.
Late
-onset
forms
are
rare
and
had
not
been
comprehensively
characterized
.
They
could
be
easily
misdiagnosed
.
To
describe
clinical
and
biochemical
features
of
the
disease
in
2
siblings
affected
with
presumed
late-onset
cobalamin
C
disease
.
Case
report
and
review
of
the
literature
.
Neurological
intensive
care
unit
of
a
university
hospital
.
We
describe
2
patients
with
neurological
deterioration
due
to
presumed
cobalamin
C
disease
.
A
16
-
year
-old
girl
was
initially
seen
with
psychosis
and
severe
progressive
neuropathy
requiring
mechanical
ventilatory
support
and
her
24
-
year
-old
sister
had
a
2
-
year
disease
course
of
subacute
combined
degeneration
of
the
spinal
cord
.
A
metabolic
workup
displayed
increased
methylmalonic
acid
levels
,
severe
hyperhomocysteinemia
,
and
low
plasma
methionine
levels
.
The
diagnosis
was
then
confirmed
by
demonstration
of
impaired
synthesis
of
adenosylcobalamin
and
methylcobalamin
in
cultured
skin
fibroblasts
and
Epstein-
Barr
virus-infected
lymphocytes
.
Under
specific
treatment
the
younger
sister
's
condition
dramatically
improved
.
Although
complementation
studies
have
not
been
conducted
,
it
is
most
likely
these
patients
had
cobalamin
C
disease
.
This
study
emphasizes
the
possibility
of
late-onset
disease
with
purely
neurological
manifestations
.
Left
untreated
,
this
treatable
condition
can
lead
to
death
or
irreversible
damage
to
the
nervous
system
.
Screening
for
intracellular
vitamin
B
12
dysmetabolism
should
,
therefore
,
be
considered
in
the
investigation
of
adults
with
unexplained
neurological
disease
,
particularly
when
they
are
initially
seen
with
a
clinical
picture
suggestive
of
vitamin
B
12
deficiency
.
Diseases
Validation
Diseases presenting
"particularly when they are initially seen with a clinical picture suggestive of vitamin b12 deficiency"
symptom
homocystinuria without methylmalonic aciduria
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