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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
:
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
Record Number:
38624
Unique Identifier:
D046349
Occurrence in VHL
:
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