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Descriptor English: Porphyrias
Descriptor Spanish: Porfirias
Descriptor Portuguese: Porfirias
Descriptor French: Porphyries
Entry term(s): Disorder, Porphyrin
Disorders, Porphyrin
Porphyria
Porphyrin Disorder
Porphyrin Disorders
Tree number(s): C18.452.811
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D011164
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.
Annotation: general or unspecified: prefer specifics
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2005; see PORPHYRIA 1963-2004
History Note: 2005 (1963)
Related: Hydroxymethylbilane Synthase MeSH
Porphobilinogen Synthase MeSH
DeCS ID: 11606
Unique ID: D011164
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2005/01/01
Date of Entry: 1999/01/01
Revision Date: 2015/06/02
Porphyrias - Preferred
Concept UI M0017334
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.
Preferred term Porphyrias
Entry term(s) Disorder, Porphyrin
Disorders, Porphyrin
Porphyria
Porphyrin Disorder
Porphyrin Disorders



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