Begreppsinformation
Föredragen term
Protoporphyria, Erythropoietic
Typ
-
Topical Descriptor
Överordnat begrepp
Hänvisningstermer
- Erythrohepatic Protoporphyria
- Erythropoietic Protoporphyria
Anmärkning
- do not confuse with PORPHYRIA, ERYTHROPOIETIC
Användningsanmärkning
- 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.
Anmärkning om ändringshistoria
- 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
Termer på andra språk
-
finska
-
protoporphyria erythropoietica
-
svenska
URI
http://www.yso.fi/onto/mesh/D046351
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