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PORPHYRIA, VARIEGATE
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DeCS
Descriptor
English
:
Porphyria, Variegate
Descriptor
Spanish
:
Porfiria Variegata
Descriptor
Portuguese
:
Porfiria Variegada
Tree Number:
C06.552.830.625
C16.320.565.708.400.625
C16.320.850.742.625
C17.800.827.742.625
C17.800.849.617.400.625
C18.452.648.708.400.625
C18.452.811.400.625
C18.452.880.617.400.625
Definition
English
:
An autosomal dominant porphyria that is due to a deficiency of
protoporphyrinogen oxidase
(EC 1.3.3.4) in the
LIVER
, the seventh 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,
COPROPORPHYRINS
and protoporphyrinogen.
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:
38625
Unique Identifier:
D046350
Occurrence in VHL
:
Similar:
DeCS
CID-10
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