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Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.
[homocystinuria without methylmalonic aciduria]
To
describe
the
clinical
and
biochemical
features
and
long
-term
outcome
of
a
cohort
of
eight
patients
with
methylmalonic
acidemia
and
homocystinuria
(
cblC
)
.
Documentation
of
clinical
features
at
birth
and
longitudinal
follow-up
of
the
biochemical
and
clinical
response
to
treatment
with
daily
oral
carnitine
and
intramuscular
hydroxocobalamin
observed
during
continuous
follow-up
for
an
average
of
5
.
7
years
.
Our
patients
had
an
increased
incidence
of
congenital
malformations
including
microcephaly
(
<
5
%
)
at
birth
(
2
of
8
)
,
congenital
heart
disease
(
2
of
8
)
,
dysmorphic
facial
features
(
1
of
8
)
,
and
thyroglossal
duct
cyst
(
1
of
8
)
.
Postnatal
hydrocephalus
(
2
of
8
)
and
hip
dislocation
caused
by
ligament
laxity
(
1
of
8
)
were
also
noted
.
One
patient
had
profound
visual
impairment
before
6
months
of
age
secondary
to
cblC
retinopathy
,
and
two
patients
had
abnormal
retinal
pigmentation
with
normal
visual
function
.
All
patients
presented
with
poor
growth
,
feeding
problems
,
and
/
or
seizures
.
No
patients
had
acute
acidotic
crises
before
or
after
treatment
.
All
patients
had
dramatic
reduction
of
plasma
free
homocystine
and
urine
methylmalonic
acid
excretion
after
initiation
of
therapy
with
carnitine
,
intramuscular
(
IM
)
hydroxocobalamin
(
OHcbl
)
and
,
in
two
cases
,
oral
betaine
.
Growth
was
significantly
improved
in
most
cases
after
the
initiation
of
therapy
,
and
microcephaly
was
resolved
in
one
patient
.
All
patients
were
developmentally
delayed
regardless
of
age
of
treatment
onset
,
although
two
patients
had
relatively
mild
developmental
delay
.
cblC
patients
may
have
an
increased
incidence
of
congenital
malformations
suggesting
prenatal
effects
of
abnormal
cbl
metabolism
.
Treatment
with
IM
OHcbl
and
carnitine
successfully
corrects
the
biochemical
abnormalities
and
improves
growth
.
Developmental
delay
of
variable
severity
is
always
present
regardless
of
age
at
diagnosis
or
treatment
onset
.
Diseases
Validation
Diseases presenting
"ligament laxity"
symptom
homocystinuria without methylmalonic aciduria
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