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Methionine synthase deficiency without megaloblastic anaemia.
[homocystinuria without methylmalonic aciduria]
We
report
findings
on
a
child
presenting
with
neonatal
homocystinuria
,
hypomethioninaemia
and
severe
neurological
symptoms
,
including
developmental
delay
and
seizures
.
Methylmalonic
aciduria
was
not
present
.
The
activity
of
methionine
synthase
in
fibroblasts
was
severely
deficient
and
formation
of
methylcobalamin
from
57
Co
labelled
cyanocobalamin
was
very
low
.
The
patients
cells
complemented
with
those
of
a
cblE
patient
but
not
with
those
of
two
cblG
patients
.
No
biochemical
or
clinical
response
to
injections
of
hydroxycobalamin
was
found
.
Both
off
treatment
and
on
betaine
and
methionine
supplementation
the
patient
,
at
age
8
years
,
has
not
developed
megaloblastic
anaemia
.
In
addition
,
the
patient
is
homozygous
for
the
C
6
77
T
polymorphism
in
the
5
,
10
methylenetetrahydrofolate
reductase
(
MTHFR
)
gene
and
the
concomitant
existence
of
this
mutation
with
the
methionine
synthase
defect
may
prevent
folate
<
trapping
>
and
thus
anaemia
.
We
report
the
lack
of
megaloblastic
anaemia
in
a
patient
with
severe
methionine
synthase
deficiency
who
is
also
homozygous
for
C
6
77
T
in
MTHFR
,
hypothesize
that
the
MTHFR
polymorphism
protects
the
patient
against
anaemia
and
speculate
that
homozygosity
for
MTHFR
C
6
77
T
could
cause
the
dissociation
between
haematological
and
neurological
disease
seen
in
some
patients
with
vitamin
B
12
deficiency
.
Diseases
Validation
Diseases presenting
"formation of methylcobalamin from 57co labelled cyanocobalamin was very low"
symptom
homocystinuria without methylmalonic aciduria
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