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Porphyria, Hepatoerythropoietic MeSH Descriptor Data 2023


MeSH Heading
Porphyria, Hepatoerythropoietic
Tree Number(s)
C06.552.830.437
C16.320.850.742.437
C17.800.827.742.437
C18.452.811.400.437
Unique ID
D017121
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D017121
Annotation
do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
Scope Note
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Entry Term(s)
Hepatoerythropoietic Porphyria
Porphyria, Erythrohepatic
Previous Indexing
Porphyria (1966-1992)
Public MeSH Note
2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
History Note
2005 (1993)
Date Established
1993/01/01
Date of Entry
1992/05/22
Revision Date
2015/06/05
Porphyria, Hepatoerythropoietic Preferred
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