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A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
(
cblC
disease
)
,
is
the
most
common
inborn
disorder
of
cobalamin
metabolism
.
This
disorder
is
caused
by
MMACHC
gene
mutations
,
and
it
is
usually
diagnosed
in
the
early
neonatal
period
.
Late
-onset
cblC
is
rare
and
difficult
to
recognize
due
to
a
wide
diversity
of
symptoms
.
Three
cases
with
late-onset
combined
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
,
are
reported
;
patients
'
clinical
presentation
,
imaging
and
MMACHC
gene
mutations
were
analyzed
.
The
age
of
onset
in
the
three
patients
was
22
years
,
40
years
and
7
years
of
age
.
Two
of
the
patients
had
MMACHC
gene
mutations
heterozygous
for
c
.
609
G
>
A
and
c
.
482
G
>
A
(
case
1
and
case
3
)
.
The
other
patient
(
case
2
)
presented
with
gene
mutations
heterozygous
for
c
.
609
G
>
A
and
c
.
1
A
>
G
.
The
three
patients
presented
with
a
heterogeneous
clinical
picture
,
including
cognitive
impairment
,
epilepsy
,
ataxia
,
pyramidal
and
peripheral
nerve
symptoms
.
Cerebral
atrophy
and
bilateral
hyperintensity
in
the
deep
white
matter
were
visible
in
MRI
scans
of
the
patients
'
brains
;
those
were
significant
findings
in
the
three
patients
with
late-onset
cblC
disease
.
In
contrast
with
previous
reports
,
bilateral
cerebellar
cortex
abnormalities
were
also
found
in
one
patient
(
case
2
)
.
Although
its
occurrence
is
rare
,
late-onset
combined
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
,
should
be
considered
in
making
a
differential
diagnosis
in
patients
who
present
with
neurological
symptoms
that
are
not
consistent
with
common
neurological
diseases
,
especially
when
cognition
,
the
pyramidal
tract
and
peripheral
nerves
are
involved
.
Diseases
Validation
Diseases presenting
"including cognitive impairment"
symptom
homocystinuria without methylmalonic aciduria
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