Protoporphyria, Erythropoietic [erytropoetická protoporfyrie]
topical
8
- Terms
-
dědičný defekt ferrochelatázy
erytrohepatální protoporfyrie
protoporfyrie erytropoetická
-
Erythrohepatic Protoporphyria
Erythropoietic Protoporphyria
Ferrochelatase Deficiency
Heme Synthetase Deficiency
Persistent link
https://www.medvik.cz/link/D046351
Definition
An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
- Annotation
- do not confuse with PORPHYRIA, ERYTHROPOIETIC
- DUI
- D046351 MeSH Browser
- CUI
- M0026013
- Previous indexing
- Porphyria (1965-2004); Porphyria, Erythrohepatic (1993-2004)
- History note
- 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
- Public note
- 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced 1
- CL
- classification
- CO
- complications
- 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 2
- 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
- UR
- urine
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases
Protoporphyria, Erythropoietic, X-Linked Dominant Disease MeSH Browser