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De novo mutation in a male patient with Fabry disease: a case report.
[fabry disease]
Fabry
disease
is
an
X-
linked
inherited
metabolic
condition
where
the
deficit
of
the
α-galactosidase
A
enzyme
,
encoded
by
the
GLA
gene
,
leads
to
glycosphingolipid
storage
,
mainly
globotriaosylceramide
.
To
date
,
more
than
600
mutations
have
been
identified
in
human
GLA
gene
that
are
responsible
for
FD
,
including
missense
and
nonsense
mutations
,
small
and
large
deletions
.
Such
mutations
are
usually
inherited
,
and
cases
of
de
novo
onset
occur
rarely
.
In
this
article
we
report
an
interesting
case
of
a
44
-
year
-old
male
patient
suffering
from
a
severe
form
of
Fabry
disease
,
with
negative
family
history
.
The
patient
showed
signs
such
as
cornea
verticillata
,
angiokeratomas
,
cardiac
and
neurological
manifestations
,
an
end-
stage
renal
disease
and
he
had
low
α-galactosidase
A
activity
.
We
detected
,
in
this
subject
,
the
mutation
c
.
493
G
>
C
in
the
third
exon
of
the
GLA
gene
which
causes
the
amino
acid
substitution
D
165
H
in
the
protein
.
This
mutation
affects
the
amino
acid
-
belonging
to
the
group
of
buried
residues
-
involved
,
probably
,
in
the
preservation
of
the
protein
folding
.
Moreover
,
studies
of
multiple
sequence
alignment
indicate
that
this
amino
acid
is
highly
conserved
,
thus
strengthening
the
hypothesis
that
it
is
a
key
amino
acid
to
the
enzyme
functionality
.
The
study
of
the
relatives
of
the
patient
showed
that
,
surprisingly
,
none
of
the
members
of
his
family
of
origin
had
this
genetic
alteration
,
suggesting
a
de
novo
mutation
.
Only
his
11
-
year
-old
daughter
-
showing
acroparaesthesias
and
heat
intolerance
with
reduced
enzymatic
activity
-
had
the
same
mutation
.
We
suggest
that
a
non-inherited
mutation
of
the
α-galactosidase
A
gene
is
responsible
for
Fabry
disease
in
the
patient
who
had
reduced
enzyme
activity
and
classical
clinical
manifestations
of
the
disease
.
In
a
family
,
it
is
rare
to
find
only
one
Fabry
disease
affected
subject
with
a
de
novo
mutation
.
These
findings
emphasize
the
importance
of
early
diagnosis
,
genetic
counselling
,
studying
the
genealogical
tree
of
the
patients
and
starting
enzyme
replacement
therapy
to
prevent
irreversible
vital
organ
damage
that
occurs
during
the
course
of
the
disease
.
Diseases
Validation
Diseases presenting
"reduced enzyme activity and classical clinical manifestations of the disease"
symptom
fabry disease
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