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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
"psychosis"
symptom
22q11.2 deletion syndrome
child syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
sneddon syndrome
This symptom has already been validated