Pesquisa sobre:
COPROPORPHYRIA, HEREDITARY
Descritores Encontrados:
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DeCS
Descritor
Inglês
:
Coproporphyria, Hereditary
Descritor
Espanhol
:
Coproporfiria Hereditaria
Descritor
Português
:
Coproporfiria Hereditária
Categoria:
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
Definição
Inglês
:
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.
Nota Histórica
Inglês
:
2005; use PORPHYRIA, HEPATIC 1993-2004
Qualificadores Permitidos
Inglês
:
blood
cerebrospinal fluid
chemically induced
classification
congenital
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Número do Registro:
38624
Identificador Único:
D046349
Ocorrência na BVS
:
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