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PROTOPORPHYRIA, ERYTHROPOIETIC
Descriptors Found:
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DeCS
Descriptor
English
:
Protoporphyria, Erythropoietic
Descriptor
Spanish
:
Protoporfiria Eritropoyética
Descriptor
Portuguese
:
Protoporfiria Eritropoética
Synonyms
English
:
Erythropoietic Protoporphyria
Tree Number:
C06.552.830.812
C16.320.565.708.400.812
C16.320.850.742.812
C17.800.827.742.812
C17.800.849.617.400.812
C18.452.648.708.400.812
C18.452.811.400.812
C18.452.880.617.400.812
Definition
English
:
An autosomal dominant porphyria that is due to a deficiency of
FERROCHELATASE
(heme synthetase) in both the LIVER and the
BONE MARROW
, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and
COPROPORPHYRINS
in the feces.
Indexing Annotation
English
:
do not confuse with PORPHYRIA, ERYTHROPOIETIC
See Related
English
:
Ferrochelatase
History Note
English
:
2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
38626
Unique Identifier:
D046351
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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