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Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
Inborn
errors
of
cobalamin
(
Cbl
)
absorption
and
metabolism
form
a
large
group
of
rare
diseases
that
include
Cbl-
C
disorder
.
Among
the
renal
complications
of
Cbl-
C
disorder
,
atypical
hemolytic
uremic
syndrome
(
HUS
)
is
the
least
common
and
has
been
described
only
in
a
small
number
of
cases
.
Four
patients
were
admitted
to
our
clinic
after
15
-
30
days
of
life
with
vomiting
associated
with
poor
sucking
,
failure
to
thrive
,
lethargy
and
hypotonia
.
Examinations
showed
thrombocytopenia
and
microangiopathic
hemolytic
anemia
associated
with
renal
damage
.
The
neonates
had
high
blood
homocysteine
levels
,
increased
urinary
levels
of
both
homocystine
and
methylmalonic
acid
,
increased
propionylcarnitine
(
C
3
)
levels
and
an
increased
C
3
/
acetylcarnitine
ratio
.
Homozygosity
for
c
.
271
-
272
dupA
(
p
.
Arg
91
LysfsX
14
)
of
the
MMACHC
gene
was
detected
in
three
patients
,
and
heterozygosity
for
c
.
271
-
272
dupA
and
c
.
666
C
>
A
(
p
.
Tyr
222
X
)
in
one
patient
,
which
confirmed
the
diagnosis
of
Cbl-
C
disorder
.
Treatment
with
parenteral
hydroxycobalamin
in
combination
with
folic
acid
and
betaine
gradually
normalized
the
metabolic
test
findings
and
hematological
and
renal
parameters
after
about
1
week
.
Atypical
HUS
in
neonates
with
Cbl-
C
disorder
may
be
associated
with
mild
to
moderate
renal
involvement
also
in
early
-onset
disease
,
and
early
adequate
therapy
can
reverse
renal
damage
.
