Porphyria, Variegate [porphyria variegata]
- Terms
-
porfyrie jihoafrická
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Porphyria Variegata
Porphyria Variegate
Porphyria, South African Type
Ppox Deficiency
Protoporphyrinogen Oxidase Deficiency
Variegate Porphyria
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
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- CN
- congenital
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 3
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine 1
- VE
- veterinary
- VI
- virology