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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
History Note
English
:
2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
congenital
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
38626
Unique Identifier:
D046351
Occurrence in VHL
:
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