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Porphyria, Acute Intermittent MeSH Descriptor Data 2022


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
Porphyria, Acute Intermittent Preferred
Hydroxymethylbilane Synthase Deficiency Related
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