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Dermatologic manifestations and neuropathic symptoms in women with Fabry disease.
[fabry disease]
Fabry
disease
(
angiokeratoma
corporis
diffusum
universale
)
is
a
rare
,
progressive
,
X-
linked
lysosomal
storage
disease
.
Deficiency
of
the
α-galactosidase
A
(
α-gal
A
)
enzyme
leads
to
accumulation
of
neutral
glycosphingolipids
within
vascular
endothelial
lysosomes
of
various
organs
,
including
skin
,
kidneys
,
heart
,
and
brain
.
1
.
We
herein
describe
the
case
of
a
30
-
year
-old
female
presenting
two
classic
signs
of
Fabry
disease
,
angiokeratomas
and
episodic
acroparesthesias
,
in
the
absence
of
other
clinical
manifestations
.
An
haplotype
corresponding
to
the
combination
of
three
different
nucleotide
polymorphic
variants
(
g
.
7192
-
7198
del
5
+
g
.
10115
A
&
gt
;
G
+
g
.
10956
C
&
gt
;
T
)
at
the
heterozygous
state
,
was
identified
.
2
.
Diseases
Validation
Diseases presenting
"vascular endothelial lysosomes"
symptom
fabry disease
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