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Isolated remethylation disorders: do our treatments benefit patients?
[homocystinuria without methylmalonic aciduria]
Deficiency
of
5
,
10
-
methylenetetrahydrofolate
reductase
(
MTHFR
)
,
the
very
rare
methionine
synthase
reductase
(
CblE
)
and
methionine
synthase
(
CblG
)
defects
,
and
the
recently
identified
CblD-variant-
1
defect
are
primary
remethylation
defects
characterized
by
an
isolated
defect
in
methionine
synthesis
without
methylmalonic
aciduria
.
The
clinical
signs
are
mainly
neurological
,
and
hematological
signs
are
seen
in
CblE
,
CblG
,
and
CblD-variant-
1
defects
.
Patients
with
neonatal
or
early
-onset
disease
exhibit
acute
neurological
distress
.
Infants
and
children
have
unspecific
mental
retardation
,
often
with
acquired
microcephaly
.
Without
appropriate
therapy
,
they
may
experience
acute
or
rapidly
progressive
neurological
deterioration
,
which
may
be
fatal
.
Adolescents
and
adults
show
normal
development
or
mild
developmental
delay
initially
and
then
experience
rapid
neurological
or
behavioral
deterioration
.
A
few
patients
may
have
signs
of
subacute
combined
degeneration
of
the
spinal
cord
.
Adults
may
be
asymptomatic
or
present
with
isolated
thromboembolism
.
All
patients
with
suspected
remethylation
disorders
should
receive
emergency
treatment
with
parenteral
administration
of
hydroxocobalamin
and
folate
supplements
combined
with
betaine
orally
.
The
long
-term
treatment
of
CblE
,
CblG
,
and
CblD-variant-
1
defects
consists
of
parenterally
administered
hydroxocobalamin
and
orally
administered
folate
and
betaine
supplements
,
whereas
patients
with
MTHFR
deficiency
require
long
-term
oral
folate
and
betaine
supplements
.
Long
-term
oral
methionine
therapy
should
also
be
considered
.
Early
treatment
may
lead
to
a
favorable
outcome
with
developmental
recovery
and
prevention
of
further
neurological
deterioration
.
In
contrast
,
most
late
-treated
patients
have
severe
and
irreversible
neuromotor
impairments
.
Hematological
abnormalities
are
easily
corrected
.
Diseases
Validation
Diseases presenting
"long-term treatment"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
fabry disease
homocystinuria without methylmalonic aciduria
phenylketonuria
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