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PORPHYRIA, HEPATOERYTHROPOIETIC
Descriptors Found:
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DeCS
Descriptor
English
:
Porphyria, Hepatoerythropoietic
Descriptor
Spanish
:
Porfiria Hepatoeritropoyética
Descriptor
Portuguese
:
Porfiria Hepatoeritropoética
Synonyms
English
:
Hepatoerythropoietic Porphyria
Porphyria, Erythrohepatic
Tree Number:
C06.552.830.437
C16.320.565.708.400.437
C16.320.850.742.437
C17.800.827.742.437
C17.800.849.617.400.437
C18.452.648.708.400.437
C18.452.811.400.437
C18.452.880.617.400.437
Definition
English
:
An autosomal recessive cutaneous porphyria that is due to a deficiency of
UROPORPHYRINOGEN DECARBOXYLASE
in both the
LIVER
and the
BONE MARROW
.
Similar
to
PORPHYRIA CUTANEA TARDA
, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of
HEME
, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Indexing Annotation
English
:
do not confuse with
PORPHYRIAS
, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
History Note
English
:
2005 (1993)
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:
30607
Unique Identifier:
D017121
Occurrence in VHL
:
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