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Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
[homocystinuria without methylmalonic aciduria]
Cobalamin
is
an
essential
cofactor
for
two
mammalian
enzymes
:
methionine
synthase
and
methylmalonyl-
CoA
mutase
.
Patients
with
the
cobalamin
C
(
CblC
)
defect
have
combined
methylmalonic
aciduria
and
homocystinuria
.
Recently
,
the
gene
responsible
for
the
CblC
type
,
MMACHC
,
was
identified
,
which
enables
molecular
diagnostics
.
In
this
study
,
we
describe
two
siblings
,
a
16
-
year
-old
girl
and
her
11
-
year
-old
brother
,
of
a
consanguineous
family
who
presented
with
a
very
distinct
clinical
manifestation
.
The
girl
presented
at
the
age
of
13
years
with
macrocytic
anaemia
,
cognitive
regression
and
Marfanoid
features
such
as
increased
arm-span
,
arachnodactyly
,
joint
hyperlaxity
and
scoliosis
.
Her
brother
presented
at
the
age
of
10
months
with
developmental
delay
and
behavioural
abnormalities
.
Biochemical
analysis
showed
severely
increased
homocysteine
and
methylmalonic
acid
levels
in
plasma
of
both
siblings
.
In
addition
,
plasma
cysteine
levels
were
decreased
in
the
girl
but
not
in
her
brother
.
The
diagnosis
of
CblC
defect
was
confirmed
by
genomic
sequencing
of
the
coding
exons
of
the
MMACHC
gene
.
Two
heterozygous
mutations
were
identified
in
both
siblings
;
the
common
c
.
271
dupA
p
.
Arg
91
LysfsX
14
and
a
novel
mutation
,
c
.
1
A
>
G
p
.
Met
1
?
.
Therapy
consisting
of
folic
acid
,
vitamin
B
6
,
l-carnitine
and
intramuscular
vitamin
B
12
resulted
in
a
clear
improvement
of
biochemical
parameters
and
,
importantly
,
resulted
in
amelioration
of
the
Marfanoid
features
in
the
girl
.
These
data
might
suggest
that
low
cysteine
levels
account
for
the
Marfanoid
features
observed
in
the
girl
and
indicate
that
the
CblC
type
of
combined
methylmalonic
aciduria
and
homocystinuria
should
be
considered
in
the
differential
diagnosis
of
patients
with
Marfanoid
features
.
Diseases
Validation
Diseases presenting
"low cysteine levels"
symptom
homocystinuria without methylmalonic aciduria
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