Porphyria, Acute Intermittent
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.
Year introduced: 1993
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Tree Number(s): C06.552.830.150, C16.320.850.742.150, C17.800.827.742.150, C18.452.811.400.150
MeSH Unique ID: D017118
Entry Terms:
- Acute Intermittent Porphyria
- Acute Intermittent Porphyrias
- Intermittent Porphyria, Acute
- Intermittent Porphyrias, Acute
- Porphyrias, Acute Intermittent
- Acute Porphyria
- Acute Porphyrias
- Porphyria, Acute
- Porphyrias, Acute
- Hydroxymethylbilane Synthase Deficiency
- Deficiencies, Hydroxymethylbilane Synthase
- Deficiency, Hydroxymethylbilane Synthase
- Hydroxymethylbilane Synthase Deficiencies
- Synthase Deficiencies, Hydroxymethylbilane
- Synthase Deficiency, Hydroxymethylbilane
- PBGD Deficiency
- Deficiencies, PBGD
- Deficiency, PBGD
- PBGD Deficiencies
- Porphobilinogen Deaminase Deficiency
- Deaminase Deficiencies, Porphobilinogen
- Deaminase Deficiency, Porphobilinogen
- Deficiencies, Porphobilinogen Deaminase
- Deficiency, Porphobilinogen Deaminase
- Porphobilinogen Deaminase Deficiencies
- Porphyria, Swedish Type
- Porphyrias, Swedish Type
- Swedish Type Porphyria
- Swedish Type Porphyrias
- Type Porphyrias, Swedish
- Type Porphyria, Swedish
- UPS Deficiency
- Deficiencies, UPS
- Deficiency, UPS
- UPS Deficiencies
- Uroporphyrinogen Synthase Deficiency
- Deficiencies, Uroporphyrinogen Synthase
- Deficiency, Uroporphyrinogen Synthase
- Synthase Deficiencies, Uroporphyrinogen
- Synthase Deficiency, Uroporphyrinogen
- Uroporphyrinogen Synthase Deficiencies
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