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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
"specific treatment"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
megacystis-microcolon-intestinal hypoperistalsis syndrome
severe combined immunodeficiency
werner syndrome
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