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[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12].
[homocystinuria without methylmalonic aciduria]
A
deficient
supply
of
vitamin
B
12
can
appear
early
during
the
first
months
of
life
,
with
haematological
and
neurological
symptoms
in
the
form
of
progressive
encephalopathy
.
We
describe
two
patients
with
megaloblastic
anaemia
and
halted
somatic
and
cranial
perimeter
development
,
accompanied
by
neurological
involvement
.
Both
of
them
had
an
increased
rate
of
excretion
of
methylmalonic
acid
,
as
well
as
homocysteine
,
in
urine
with
extremely
low
serum
levels
of
vitamin
B
12
,
as
compared
to
normal
values
.
Both
patients
were
breastfed
only
.
The
study
of
the
mothers
revealed
asymptomatic
pernicious
anaemia
.
Treatment
with
hydroxycobalamine
led
to
clinical
recovery
and
psychomotor
development
progressively
returned
to
normal
.
Vitamin
B
12
deficiency
due
to
a
shortage
of
supply
from
the
mother
must
be
taken
into
account
in
the
differential
diagnosis
of
possibly
reversible
severe
encephalopathies
.
Diseases
Validation
Diseases presenting
"asymptomatic pernicious anaemia"
symptom
homocystinuria without methylmalonic aciduria
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