Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Cobalamin C defect presenting as severe neonatal hyperammonemia.
[homocystinuria without methylmalonic aciduria]
Cobalamin
C
(
Cbl-
C
)
defect
is
the
most
common
inborn
error
of
cobalamin
metabolism
which
causes
a
block
in
the
pathway
responsible
for
the
synthesis
of
its
two
metabolically
active
forms
methyl-
and
adenosylcobalamin
.
Cbl-
C
defect
causes
the
accumulation
of
methylmalonic
acid
and
homocysteine
and
decreased
methionine
synthesis
.
The
clinical
presentation
of
patients
with
early
-onset
Cbl-
C
defect
,
characterized
by
a
multisystem
disease
with
severe
neurological
,
ocular
,
hematological
,
renal
,
gastrointestinal
,
cardiac
,
and
pulmonary
manifestations
,
differs
considerably
from
what
observed
in
the
"
classical
"
form
of
methylmalonic
aciduria
caused
by
defect
of
methylmalonyl-
CoA
mutase
.
This
last
condition
is
in
most
cases
dominated
in
the
neonatal
period
by
a
metabolic
encephalopathy
"
intoxication
type
"
with
severe
hyperammonemia
and
ketoacidosis
.
We
report
a
Cbl-
C
defect
patient
presenting
a
neonatal
encephalopathy
with
severe
hyperammonemia
and
ketoacidosis
who
was
successfully
treated
with
peritoneal
dialysis
.
To
the
best
of
our
knowledge
,
there
are
no
reported
cases
of
Cbl-
C
defect
showing
an
acute
presentation
resembling
a
classical
methylmalonic
aciduria
.
This
observation
enlarges
the
spectrum
of
inherited
diseases
to
be
considered
in
the
differential
diagnosis
of
neonatal
hyperammonemia
.
