Porphyria, Hepatoerythropoietic [porfyrie hepatoerytropoetická]
topical
7
- Terms
-
HEP
porfyrie erytrohepatální
porfyrie erytrohepatická
-
Hepatoerythropoietic Porphyria
Porphyria, Erythrohepatic
Persistent link
https://www.medvik.cz/link/D017121
Definition
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
- Annotation
- do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
- DUI
- D017121 MeSH Browser
- CUI
- M0026014
- Previous indexing
- Porphyria (1966-1992)
- History note
- 2005 (1993)
- Public note
- 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- CN
- congenital
- DI
- diagnosis 2
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 1
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 3
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases