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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
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated