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PORPHYRIAS
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DeCS
Descriptor
English
:
Porphyrias
Descriptor
Spanish
:
Porfirias
Descriptor
Portuguese
:
Porfirias
Tree Number:
C16.320.565.708
C17.800.849.617
C18.452.648.708
C18.452.811
C18.452.880.617
Definition
English
:
A diverse group of
metabolic diseases
characterized by errors in the biosynthetic pathway of
HEME
in the
LIVER
, the
BONE MARROW
, or both. They are classified by the deficiency of specific
enzymes
, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions).
Porphyrias
can be hereditary or acquired as a result of
toxicity
to the hepatic or erythropoietic marrow
tissues.
Indexing Annotation
English
:
general or unspecified: prefer specifics
See Related
English
:
Hydroxymethylbilane Synthase
Porphobilinogen Synthase
History Note
English
:
2005 (1963)
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:
11606
Unique Identifier:
D011164
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS