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[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children].
[homocystinuria without methylmalonic aciduria]
Defects
of
methionine
synthase
or
methionine
synthase
reductase
result
in
an
impaired
remethylation
of
homocysteine
to
methionine
.
Patients
present
with
megaloblastic
anemia
,
failure
to
thrive
and
various
neurological
manifestations
including
mental
retardation
,
cerebral
atrophy
,
muscular
hypotonia
or
hypertonia
,
ataxia
,
seizures
,
nystagmus
and
visual
disturbances
.
We
report
on
three
children
(
two
girls
,
one
boy
)
,
aged
3
.
5
-
7
.
5
years
,
who
presented
with
severe
megaloblastic
anemia
,
micro-cephalus
and
partly
nystagmus
(
2
/
3
)
due
to
a
rare
inborn
error
of
remethylation
.
Methionine
synthase
reductase
deficiency
,
cblE
type
of
homocystinuria
(
OMIM
236270
)
,
is
a
rare
autosomal
recessive
inherited
disorder
described
only
in
14
patients
worldwide
.
Metabolic
hallmarks
of
the
disease
are
hyperhomocysteinemia
(
median
98
micromol
/
l
,
normal
range
<
15
)
without
methylmalonic
aciduria
but
often
hypomethioninemia
.
The
patients
described
here
were
diagnosed
at
ages
of
2
-
18
months
.
The
importance
of
an
early
recognition
of
this
possibly
underdiagnosed
congenital
disease
is
stressed
.
Treatment
consisted
of
the
application
of
hydroxocobalamine
(
1
-
2
mg
weekly
,
i
.
m
.
)
,
betaine
(
100
-
200
mg
/
kg
daily
,
p
.
o
.
)
,
folate
(
5
-
10
mg
daily
,
p
.
o
.
)
and
intensive
physical
therapy
.
Defects
of
intracellular
processing
of
cobalamine
must
be
considered
in
all
patients
with
neurological
symptoms
in
combination
with
megaloblastic
anemia
.
Measurements
of
homocysteine
and
methionine
in
plasma
as
well
as
methylmalonic
acid
in
urine
is
required
for
confirming
the
diagnosis
.
Early
treatment
im-proves
the
outcome
,
although
mental
disability
may
not
be
prevented
.
Treatment
has
a
positive
impact
on
megaloblastic
anemia
but
only
slight
effect
on
hyperhomocysteinemia
.
The
long
-term
cardiovascular
risk
of
hyperhomocysteinemia
in
cblE
deficient
patients
is
not
known
yet
.
Diseases
Validation
Diseases presenting
"deficient patients"
symptom
aniridia
classical phenylketonuria
congenital toxoplasmosis
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
zellweger syndrome
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