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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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated