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Porphyrias MeSH Descriptor Data 2023


MeSH Heading
Porphyrias
Tree Number(s)
C18.452.811
Unique ID
D011164
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D011164
Annotation
general or unspecified: prefer specifics
Scope Note
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Entry Term(s)
Porphyria
Porphyrin Disorder
NLM Classification #
QU 260.5.P6
See Also
Hydroxymethylbilane Synthase
Porphobilinogen Synthase
Public MeSH Note
2005; see PORPHYRIA 1963-2004
History Note
2005 (1963)
Date Established
2005/01/01
Date of Entry
1999/01/01
Revision Date
2015/06/02
Porphyrias Preferred
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