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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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated