MeSH Browser

MeSH Heading: Porphyria, Acute Intermittent
Tree Number(s): C06.552.830.150; C16.320.850.742.150; C17.800.827.742.150; C18.452.811.400.150
Unique ID: D017118
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017118
Scope Note: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Entry Term(s): Acute Porphyria; Hydroxymethylbilane Synthase Deficiency; PBGD Deficiency; Porphobilinogen Deaminase Deficiency; Porphyria, Swedish Type; UPS Deficiency; Uroporphyrinogen Synthase Deficiency
Previous Indexing: Porphyria (1966-1992)
See Also: Hydroxymethylbilane Synthase
Public MeSH Note: 1993
History Note: 1993
Date Established: 1993/01/01
Date of Entry: 1992/05/22
Revision Date: 2015/06/05

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Porphyria, Acute Intermittent MeSH Descriptor Data 2025