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Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
is
a
common
organic
aciduria
disease
.
Recently
,
gas
chromatography-mass
spectrometry
has
been
used
to
diagnose
methylmalonic
aciduria
in
China
.
Often
,
however
,
the
diagnosis
of
methylmalonic
aciduria
is
delayed
because
of
a
lack
of
technical
expertise
and
the
limited
experience
of
general
clinicians
in
China
.
In
this
study
,
the
natural
history
,
clinical
features
,
and
outcome
of
77
Chinese
patients
with
methylmalonic
aciduria
were
investigated
.
Of
the
77
patients
,
31
(
40
.
3
%
)
had
isolated
methylmalonic
aciduria
and
46
(
59
.
7
%
)
had
methylmalonic
aciduria
combined
with
homocystinemia
.
Thus
,
we
observed
a
higher
rate
of
the
combined
disease
than
studies
conducted
in
other
countries
,
suggesting
that
it
might
be
more
common
in
China
.
Total
plasma
homocysteine
measurement
might
enable
differential
diagnoses
of
methylmalonic
aciduria
to
be
distinguished
.
The
clinical
spectrum
of
these
77
patients
with
methylmalonic
aciduria
ranged
from
neonatal
death
and
severe
symptoms
to
benign
asymptomatic
organic
aciduria
.
Neonatal
and
infantile
onset
,
which
was
a
characteristic
of
the
majority
of
cases
,
was
associated
with
a
greater
severity
relative
to
later-onset
cases
.
Among
the
17
cases
who
had
onset
after
3
years
of
age
,
only
1
patient
had
isolated
methylmalonic
aciduria
and
16
had
combined
methylmalonic
aciduria
and
homocystinemia
.
Nine
of
the
patients
with
combined
methylmalonic
aciduria
and
homocystinemia
completely
recovered
and
exhibited
normal
intelligence
,
whereas
seven
improved
,
with
a
mild
handicap
.
Diseases
Validation
Diseases presenting
"homocystinemia completely recovered and exhibited normal intelligence"
symptom
homocystinuria without methylmalonic aciduria
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