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Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
[homocystinuria without methylmalonic aciduria]
The
clbC
form
of
methylmalonic
acidaemia
is
a
rare
and
poorly
understood
condition
which
results
from
impaired
biosynthesis
of
methylcobalamin
and
adenosylcobalamin
.
The
consequent
functional
deficiencies
of
methylmalonyl-
CoA
mutase
and
methionine
synthase
produce
both
methylmalonic
aciduria
and
homocystinuria
.
Systemic
symptoms
and
neurological
decompensation
comprise
the
clinical
phenotype
.
In
an
effort
to
clarify
the
phenotype
and
prognosis
,
we
obtained
clinical
information
on
50
patients
with
methylmalonic
acidaemia
whose
cells
had
been
assigned
to
the
cblC
complementation
group
.
We
identified
two
distinct
phenotypes
;
they
differed
in
age
of
onset
,
presence
of
systemic
symptoms
,
type
of
neurological
symptoms
,
and
outcome
after
diagnosis
and
treatment
.
Forty
-
four
patients
presented
in
the
first
year
of
life
.
Feeding
difficulties
,
neurological
dysfunction
(
hypotonia
,
seizures
,
developmental
delay
)
,
and
ophthalmological
and
haematological
abnormalities
characterized
their
clinical
picture
.
About
one
-
quarter
of
those
patients
died
.
Survival
was
associated
with
neurological
impairment
;
only
one
infant
was
neurologically
intact
at
follow-up
.
Onset
in
childhood
,
in
contrast
,
was
associated
with
less
severe
haematological
abnormalities
,
largely
involving
the
red
cell
series
.
Extrapyramidal
signs
,
dementia
,
delirium
or
psychosis
characterized
the
neurological
findings
.
Survival
,
with
mild
to
moderate
disability
in
some
,
was
typical
in
patients
with
later
onset
.
Treatment
in
both
groups
included
hydroxycobalamin
,
betaine
and
carnitine
;
complete
normalization
of
biochemical
parameters
was
rare
.
Diseases
Validation
Diseases presenting
"impaired biosynthesis of methylcobalamin and adenosylcobalamin"
symptom
homocystinuria without methylmalonic aciduria
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