Rare Diseases Symptoms Automatic Extraction
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Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
acidemia
with
associated
homocystinuria
is
a
rare
inborn
error
of
amino
acid
metabolism
affecting
energy
supply
on
the
cellular
level
.
Its
effects
on
recovery
from
surgically
induced
organ
ischemia
are
largely
unknown
.
We
report
the
successful
closure
of
a
nonrestrictive
ventricular
septal
defect
by
following
a
normothermic
strategy
combined
with
ample
metabolic
substrate
supply
.