Porphyria, Variegate [porphyria variegata]
topical
4
- Terms
-
porfyrie jihoafrická
-
Porphyria Variegata
Porphyria Variegate
Porphyria, South African Type
Ppox Deficiency
Protoporphyrinogen Oxidase Deficiency
Variegate Porphyria
Persistent link
https://www.medvik.cz/link/D046350
Definition
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.
- DUI
- D046350 MeSH Browser
- CUI
- M0025972
- Previous indexing
- Porphyria, Hepatic (1993-2004); Porphyria (1964-2004)
- History note
- 2005; use PORPHYRIA, HEPATIC 1993-2004
- Public note
- 2005; see PORPHYRIA, HEPATIC 1993-2004
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- CN
- congenital 0
- DI
- diagnosis 1
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 3
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 1
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 1
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 1
- UR
- urine 1
- VE
- veterinary 0
- VI
- virology 0
...
Occurrences in Medvik records
C
Diseases