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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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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