Rare Diseases Symptoms Automatic Extraction
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Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
combined
with
homocystinuria
(
MMA-HC
)
is
the
biochemical
trait
of
a
metabolic
disorder
resulting
from
impaired
conversion
of
dietary
cobalamin
(
cbl
,
or
vitamin
B
12
)
to
its
two
metabolically
active
forms
.
Effects
on
urinary
purine
and
pyrimidine
levels
have
not
been
described
for
this
condition
.
Urine
samples
were
collected
from
three
patients
with
methylmalonic
aciduria
combined
with
homocystinuria
and
from
70
healthy
subjects
.
Urinary
purine
and
pyrimidine
levels
were
quantitated
by
the
use
of
LC
/
UV-Vis
and
LC
/
ESI
/
MS
.
Higher
urine
levels
of
pyrimidines
were
detected
with
both
methods
in
patients
compared
to
controls
.
Methylmalonic
aciduria
with
homocystinuria
is
due
to
deficiency
of
the
enzyme
,
cobalamin
reductase
.
The
enzyme
defect
leads
to
altered
hepatic
metabolism
,
which
appears
to
modify
circulating
pyrimidine
levels
.
Diseases
Validation
Diseases presenting
"methylmalonic aciduria"
symptom
canavan disease
homocystinuria without methylmalonic aciduria
This symptom has already been validated