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Protoporphyria, Erythropoietic MeSH Descriptor Data 2023


MeSH Heading
Protoporphyria, Erythropoietic
Tree Number(s)
C06.552.830.812
C16.320.850.742.812
C17.800.827.742.812
C18.452.811.400.812
Unique ID
D046351
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D046351
Annotation
do not confuse with PORPHYRIA, ERYTHROPOIETIC
Scope Note
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.
Entry Term(s)
Erythrohepatic Protoporphyria
Erythropoietic Protoporphyria
Ferrochelatase Deficiency
Heme Synthetase Deficiency
Previous Indexing
Porphyria (1965-2004)
Porphyria, Erythrohepatic (1993-2004)
See Also
Ferrochelatase
Public MeSH Note
2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
History Note
2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
Date Established
2005/01/01
Date of Entry
2004/07/15
Revision Date
2015/06/08
Protoporphyria, Erythropoietic Preferred
Ferrochelatase Deficiency Related
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