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[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
and
homocystinuria
is
a
very
rare
inborn
error
of
cellular
cobalamin
(
Cbl
)
metabolism
.
We
describe
the
biochemical
evolution
and
clinical
course
of
a
boy
with
neonatal
onset
CblC
mutant
defect
.
B
orn
after
a
normal
pregnancy
,
the
patient
developed
general
hypotonia
and
severe
feeding
difficulties
at
5
days
of
life
.
Diagnosis
of
methylmalonic
aciduria
and
homocystinuria
was
established
by
amino-acid
and
organic
acid
analysis
and
was
confirmed
by
enzyme
and
genetic
studies
.
The
patient
was
initially
treated
with
parenteral
hydroxocobalamin
(
1
mg
/
day
)
,
oral
carnitine
(
100
mg
/
kg
/
day
)
and
a
restricted
protein
diet
.
This
treatment
returned
methylmalonic
acid
levels
to
normal
.
Despite
the
parenteral
hydroxocobalamin
therapy
,
the
patient
showed
no
improvement
in
neurological
dysfunction
,
hypotonia
or
developmental
delay
.
Oral
betaine
supplementation
(
3
g
/
day
)
from
months
3
-
15
reduced
plasma
total
homocysteine
and
homocystinuria
.
The
patient
showed
clinical
improvement
in
neurological
and
growth
development
.
We
conclude
that
early
betaine
therapy
was
safe
and
effective
in
our
patient
with
neonatal
onset
methylmalonic
aciduria
and
homocystinuria
type
CblC
.
Diseases
Validation
Diseases presenting
"homocystinuria was established by amino-acid and organic acid analysis and was confirmed by enzyme and genetic studies"
symptom
homocystinuria without methylmalonic aciduria
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