Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
The
cblC
type
of
combined
methylmalonic
aciduria
(
MMA
)
and
homocystinuria
(
HC
)
is
the
most
common
inborn
error
of
vitamin
B
(
12
)
metabolism
and
is
caused
by
mutations
in
the
MMACHC
gene
.
To
elucidate
the
spectrum
of
mutations
that
causes
combined
MMA
and
HC
in
Chinese
patients
,
the
MMACHC
gene
was
sequenced
in
79
unrelated
Chinese
patients
.
Sequence
analysis
identified
98
.
1
%
of
disease
alleles
and
found
that
all
patients
had
at
least
one
MMACHC
mutation
.
A
total
of
24
mutations
were
identified
.
Out
of
the
24
mutations
identified
,
9
were
novel
ones
,
including
missense
mutations
(
c
.
365
A
>
T
and
c
.
452
A
>
G
)
,
nonsense
mutations
(
c
.
315
C
>
G
and
c
.
615
C
>
A
)
,
deletions
(
c
.
99
delA
and
c
.
277
-
3
_
c
.
303
del
30
)
,
duplications
(
c
.
248
dupT
and
c
.
626
dupT
)
and
an
insertion
(
c
.
445
_
446
insA
)
.
The
c
.
609
G
>
A
,
c
.
658
_
660
delAAG
,
c
.
482
G
>
A
,
c
.
394
C
>
T
and
c
.
80
A
>
G
mutations
were
the
most
common
mutations
and
accounted
for
80
%
of
disease
alleles
.
Haplotype
analysis
suggests
that
the
spread
of
the
c
.
80
A
>
G
,
c
.
609
G
>
A
and
c
.
658
_
660
delAAG
mutations
in
Chinese
patients
were
caused
by
a
founder
effect
.
The
results
indicate
that
defects
occurring
in
the
MMACHC
gene
are
the
major
cause
of
this
disease
in
Chinese
patients
with
combined
MMA
and
HC
,
and
direct
mutation
analysis
can
therefore
be
used
as
a
rapid
confirmatory
diagnosis
among
these
Chinese
patients
.
Diseases
Validation
Diseases presenting
"methylmalonic aciduria"
symptom
canavan disease
homocystinuria without methylmalonic aciduria
This symptom has already been validated