Search on:
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
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
CN
congenital
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:
30607
Unique Identifier:
D017121
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS