Rare Diseases Symptoms Automatic Extraction
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Genetic study in a Singaporean patient with erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
autosomal
dominant
disorder
of
haem
biosynthesis
resulting
from
a
partial
decrease
in
ferrochelatase
(
FECH
)
activity
which
leads
to
the
excessive
accumulation
of
protoporphyrin
in
blood
,
erythrocytes
and
tissues
.
Cutaneous
manifestations
of
photosensitivity
usually
appear
in
early
infancy
upon
the
first
sun
exposures
.
This
normally
requires
the
co
-inheritance
of
a
common
hypomorphic
FECH
allele
and
a
deleterious
FECH
mutation
.
Here
,
we
report
the
first
Singaporean
Chinese
patient
with
EPP
characterized
at
the
molecular
level
.
Diseases
Validation
Diseases presenting
"accumulation of protoporphyrin in blood"
symptom
erythropoietic protoporphyria
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