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Cobalamin and folate deficiency: acquired and hereditary disorders in children.
[homocystinuria without methylmalonic aciduria]
This
review
highlights
the
features
of
cobalamin
and
folate
deficiency
and
insufficiency
that
are
particular
to
children
.
Maternal
deficiency
of
cobalamin
and
insufficiency
or
deficiency
of
folate
are
the
principal
causes
of
deficiencies
of
these
vitamins
in
the
newborn
.
Maternal
cobalamin
deficiency
can
be
caused
by
pernicious
anemia
or
postgastrectomy
,
but
most
often
results
from
a
diet
lacking
in
animal
protein
.
The
mothers
are
usually
not
anemic
and
failure
to
thrive
and
neurological
deficits
are
more
common
in
their
infants
than
is
megaloblastic
anemia
.
Inborn
errors
of
cobalamin
transport
and
metabolism
present
with
homocystinuria
and
methylmalonic
aciduria
,
either
alone
or
in
combination
.
They
share
many
of
the
clinical
features
of
nutritional
cobalamin
deficiency
.
Maternal
folate
insufficiency
results
in
neural
tube
defects
,
fetal
loss
,
prematurity
,
and
fetal
growth
retardation
.
Inborn
errors
of
folate
metabolism
are
rare
,
but
polymorphisms
affecting
the
gene
for
methylenetetrahydrofolate
reductase
(
MTHFR
)
are
common
and
may
have
significant
health
implications
.
Elevation
of
plasma
methylmalonic
acid
(
MMA
)
levels
reflects
a
functional
lack
of
cobalamin
,
whereas
elevated
total
homocysteine
levels
are
associated
with
a
lack
of
either
folate
or
cobalamin
.
The
determination
of
these
should
be
part
of
the
investigation
of
failure
to
thrive
,
neurological
disorders
,
and
unexplained
anemia
or
cytopenias
in
children
.
Diseases
Validation
Diseases presenting
"folate deficiency"
symptom
homocystinuria without methylmalonic aciduria
This symptom has already been validated