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A random Abstract
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Our Team
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency.
[homocystinuria without methylmalonic aciduria]
We
describe
a
case
of
methylmalonic
aciduria
(
MMA
)
occurred
in
a
22
-
month
-old
boy
whose
diet
was
exclusively
based
upon
breast
-feeding
from
a
mother
following
a
long
-lasting
strict
vegetarian
diet
.
Clinical
picture
showed
a
dramatic
onset
,
with
a
profound
drowsiness
associated
with
a
severe
metabolic
acidosis
,
hyperammonemia
,
macrocytic
anemia
,
ketonuria
,
and
massive
methylmalonic
aciduria
without
homocystinuria
.
Both
symptoms
and
biochemical
findings
quickly
improved
thanks
to
prompt
vitamin
B
(
12
)
parenteral
therapy
.
Biochemical
and
enzymatic
findings
allowed
a
diagnosis
of
mild
mutase
deficiency
,
which
only
and
inadequate
dietary
B
(
12
)
contribution
might
have
revealed
.
Our
case
highlights
the
risk
of
a
prolonged
strictly
vegetarian
diet
of
lactating
mother
for
providing
inadequate
amounts
of
some
nutrients
to
the
breast
-fed
baby
.
Moreover
,
such
a
dietary
behaviour
could
dramatically
unmask
otherwise
clinically
unapparent
metabolic
defects
in
the
baby
.
Diseases
Validation
Diseases presenting
"homocystinuria"
symptom
adrenomyeloneuropathy
cohen syndrome
homocystinuria without methylmalonic aciduria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
This symptom has already been validated