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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
[homocystinuria without methylmalonic aciduria]
Chronic
renal
failure
is
a
well-known
long
-term
complication
of
methylmalonic
aciduria
(
MMA-uria
)
,
occurring
even
under
apparently
optimal
metabolic
management
.
The
onset
of
renal
dysfunction
seems
to
be
dependent
on
the
type
of
defect
and
vitamin
B
12
-
responsiveness
.
We
report
on
a
patient
with
a
vitamin
B
12
-
responsive
cobalamin
A
type
(
cblA
)
MMA-uria
caused
by
a
homozygous
stop
mutation
(
p
.
R
145
X
)
in
the
cobalamin
A
gene
(
MMAA
)
.
She
was
diagnosed
with
chronic
kidney
disease
(
CKD
)
stage
III
at
the
age
of
12
years
.
Following
re
-evaluation
,
the
patient
received
vitamin
B
12
(
hydroxocobalamin
)
treatment
,
resulting
in
a
significant
decrease
in
the
concentration
of
methylmalonic
acid
(
MMA
)
in
urine
and
plasma
.
Until
age
29
years
glomerular
filtration
rate
remained
stable
probably
due
to
hydroxocobalamin
treatment
slowing
down
progression
to
end-
stage
renal
failure
.
Kidney
biopsies
showed
non-
specific
manifestations
of
chronic
interstitial
inflammation
.
The
patient
received
a
renal
transplant
at
age
35
years
.
Under
continuous
treatment
with
hydroxocobalamin
there
is
no
evidence
of
kidney
damage
due
to
MMA-uria
until
the
last
follow-up
6
years
after
transplantation
.
This
case
report
illustrates
(
i
)
a
long
-term
follow-up
of
a
patient
with
MMA-uria
due
to
cblA
deficiency
,
(
ii
)
the
involvement
of
the
kidney
as
a
target
organ
and
(
iii
)
the
importance
of
early
and
adequate
vitamin
B
12
substitution
in
responsive
patients
.
Further
investigation
will
be
necessary
to
prove
the
protective
effect
of
hydroxocobalamin
in
the
kidney
in
vitamin
B
12
-
responsive
patients
.
