Pesquisa sobre:
PORPHYRIA, VARIEGATE
Descritores Encontrados:
1
Mostrando:
1 .. 1
1 / 1
DeCS
Descritor
Inglês
:
Porphyria, Variegate
Descritor
Espanhol
:
Porfiria Variegata
Descritor
Português
:
Porfiria Variegada
Categoria:
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
Definição
Inglês
:
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.
Nota Histórica
Inglês
:
2005; use PORPHYRIA, HEPATIC 1993-2004
Qualificadores Permitidos
Inglês
:
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
Número do Registro:
38625
Identificador Único:
D046350
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS