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Clinically important features of porphyrin and heme metabolism and the porphyrias.
[erythropoietic protoporphyria]
Heme
,
like
chlorophyll
,
is
a
primordial
molecule
and
is
one
of
the
fundamental
pigments
of
life
.
Disorders
of
normal
heme
synthesis
may
cause
human
diseases
,
including
certain
anemias
(
X-
linked
sideroblastic
anemias
)
and
porphyrias
.
Porphyrias
are
classified
as
hepatic
and
erythropoietic
porphyrias
based
on
the
organ
system
in
which
heme
precursors
(
5
-
aminolevulinic
acid
(
ALA
)
,
porphobilinogen
and
porphyrins
)
are
chiefly
overproduced
.
The
hepatic
porphyrias
are
further
subdivided
into
acute
porphyrias
and
chronic
hepatic
porphyrias
.
The
acute
porphyrias
include
acute
intermittent
,
hereditary
copro-
,
variegate
and
ALA
dehydratase
deficiency
porphyria
.
Chronic
hepatic
porphyrias
include
porphyria
cutanea
tarda
and
hepatoerythropoietic
porphyria
.
The
erythropoietic
porphyrias
include
congenital
erythropoietic
porphyria
(
Gűnther
's
disease
)
and
erythropoietic
protoporphyria
.
In
this
review
,
we
summarize
the
key
features
of
normal
heme
synthesis
and
its
differing
regulation
in
liver
versus
bone
marrow
.
In
both
organs
,
principal
regulation
is
exerted
at
the
level
of
the
first
and
rate-controlling
enzyme
,
but
by
different
molecules
(
heme
in
the
liver
and
iron
in
the
bone
marrow
)
.
We
also
describe
salient
clinical
,
laboratory
and
genetic
features
of
the
eight
types
of
porphyria
.
Diseases
Validation
Diseases presenting
"bone marrow"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
cohen syndrome
cushing syndrome
cutaneous mastocytosis
erdheim-chester disease
erythropoietic protoporphyria
focal myositis
hodgkin lymphoma, classical
krabbe disease
legionellosis
liposarcoma
monosomy 21
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
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