Expresión de búsqueda:
PORPHYRIA, VARIEGATE
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Porphyria, Variegate
Descriptor
Español
:
Porfiria Variegata
Descriptor
Portugués
:
Porfiria Variegada
Categoría:
C06.552.830.625
C16.320.850.742.625
C17.800.827.742.625
C18.452.811.400.625
Definición
Inglés
:
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
Inglés
:
2005; use PORPHYRIA, HEPATIC 1993-2004
Calificadores Permitidos
Inglés
:
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 del Registro:
38625
Identificador Único:
D046350
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS