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COPROPORPHYRIA, HEREDITARY
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DeCS
Descriptor
English
:
Coproporphyria, Hereditary
Descriptor
Spanish
:
Coproporfiria Hereditaria
Descriptor
Portuguese
:
Coproporfiria Hereditária
Tree Number:
C06.552.830.074
C16.320.565.708.400.074
C16.320.850.742.074
C17.800.827.742.074
C17.800.849.617.400.074
C18.452.648.708.400.074
C18.452.811.400.074
C18.452.880.617.400.074
Definition
English
:
An autosomal dominant porphyria that is due to a deficiency of
COPROPORPHYRINOGEN OXIDASE
in the
LIVER
, the sixth enzyme in the 8-enzyme biosynthetic pathway of
HEME
. Clinical features include both neurological
symptoms
and cutaneous lesions.
Patients
excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and
COPROPORPHYRINS.
History Note
English
:
2005; use PORPHYRIA, HEPATIC 1993-2004
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:
38624
Unique Identifier:
D046349
Occurrence in VHL
:
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CID-10
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