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Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
We
describe
a
patient
with
methylmalonic
aciduria
and
homocystinuria
due
to
a
defect
in
cobalamin
metabolism
of
the
Cbl-
C
type
mutant
(
McKusick
277400
)
.
Our
case
was
diagnosed
within
the
first
2
months
of
life
by
amino
acid
analysis
(
ion-exchange
chromatography
)
and
by
biochemical
studies
in
cultured
fibroblasts
(
[
14
C
]
propionate
incorporation
,
methionine
and
serine
formation
)
.
We
discuss
the
clinical
course
and
the
biochemical
evolution
after
2
years
of
hydroxycobalamin
treatment
that
led
to
an
improvement
in
general
clinical
condition
and
neurological
performance
.
