Porphyria, Acute Intermittent [akutní intermitentní porfyrie]
- Terms
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akutní porfyrie
porfyrie akutní intermitentní
švédská porfyrie
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Acute Porphyria
Hydroxymethylbilane Synthase Deficiency
PBGD Deficiency
Porphobilinogen Deaminase Deficiency
Porphyria, Swedish Type
UPS Deficiency
Uroporphyrinogen Synthase Deficiency
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.
- DUI
- D017118 MeSH Browser
- CUI
- M0026010
- Previous indexing
- Porphyria (1966-1992)
- History note
- 1993
- Public note
- 1993
Allowable subheadings
- BL
- blood 3
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 1
- CO
- complications 6
- DI
- diagnosis 24
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology 3
- EP
- epidemiology 1
- EH
- ethnology 1
- ET
- etiology 5
- GE
- genetics 17
- HI
- history
- IM
- immunology
- ME
- metabolism 2
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 2
- PP
- physiopathology 3
- PC
- prevention & control 1
- PX
- psychology 1
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 6
- UR
- urine 2
- VE
- veterinary
- VI
- virology
Porphyria, Acute Intermittent, Nonerythroid Variant Disease MeSH Browser