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[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
acidemia
with
homocystinuria
is
a
common
form
of
methylmalonic
acidemia
in
China
.
Patients
with
this
disease
can
progress
to
death
without
timely
and
effective
treatment
.
This
study
aimed
to
analyze
the
treatment
outcomes
of
patients
with
combined
methylmalonic
acidemia
and
homocystinuria
.
From
September
2004
to
April
2012
,
58
patients
with
combined
methylmalonic
acidemia
and
homocystinuria
(
34
males
and
24
females
)
were
diagnosed
and
treated
in
our
hospital
.
Fifty
cases
were
from
clinical
patients
including
42
early
-onset
cases
and
8
late-onset
cases
.
Their
age
when
they
were
diagnosed
ranged
from
18
days
to
30
.
8
years
.
The
other
8
cases
were
from
newborn
screening
.
All
the
patients
were
treated
with
vitamin
B
12
,
betaine
,
folic
acid
,
vitamin
B
6
,
and
L-
carnitine
.
The
physical
and
neuropsychological
development
,
general
laboratory
tests
,
the
levels
of
amino
acids
,
acylcarnitines
,
and
homocysteine
in
blood
,
and
organic
acids
in
urine
were
followed
up
.
The
follow-up
period
ranged
from
1
month
to
7
.
1
years
.
Three
cases
died
(
all
were
early
-onset
cases
)
.
In
the
other
patients
after
treatment
,
the
symptoms
such
as
recurrent
vomiting
,
seizures
,
lethargy
,
and
poor
feeding
disappeared
,
muscle
strength
and
muscle
tension
were
improved
,
and
general
biochemical
abnormalities
such
as
anemia
and
metabolic
acidosis
were
corrected
.
Among
the
surviving
55
cases
,
49
had
neurological
impairments
such
as
developmental
delay
and
mental
retardation
.
The
median
levels
of
blood
propionylcarnitine
and
its
ratio
with
acetylcarnitine
,
serum
homocysteine
,
and
urine
methylmalonic
acid
were
significantly
decreased
(
P
<
0
.
01
)
,
from
7
.
73
µmol
/
L
(
ranged
from
1
.
5
to
18
.
61
µmol
/
L
)
,
0
.
74
(
ranged
from
0
.
29
to
2
.
06
)
,
97
.
3
µmol
/
L
(
ranged
from
25
.
1
to
250
µmol
/
L
)
and
168
.
55
(
ranged
from
3
.
66
to
1032
.
82
)
before
treatment
to
2
.
74
µmol
/
L
(
ranged
from
0
.
47
to
12
.
09
µmol
/
L
)
,
0
.
16
(
ranged
from
0
.
03
to
0
.
62
)
,
43
.
8
µmol
/
L
(
ranged
from
17
to
97
.
8
µmol
/
L
)
and
6
.
81
(
ranged
from
0
to
95
.
43
)
after
treatment
,
respectively
.
Patients
with
combined
methylmalonic
acidemia
and
homocystinuria
respond
to
a
combined
treatment
consisting
of
supplementation
of
hydroxycobalamin
,
betaine
,
folic
acid
,
vitamin
B
6
and
L-
carnitine
with
clinical
and
biochemical
improvement
.
But
the
long
-term
outcomes
are
unsatisfactory
,
with
neurological
sequelae
in
most
patients
.
Diseases
Validation
Diseases presenting
"long-term outcomes"
symptom
acute rheumatic fever
alpha-thalassemia
aromatase deficiency
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
dystrophic epidermolysis bullosa
esophageal squamous cell carcinoma
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
lamellar ichthyosis
omenn syndrome
phenylketonuria
proteus syndrome
trochlear dysplasia
von hippel-lindau disease
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