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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
  • Uroporphyrinogen Synthase Deficiency
  • Deficiencies, Uroporphyrinogen Synthase
  • Deficiency, Uroporphyrinogen Synthase
  • Synthase Deficiencies, Uroporphyrinogen
  • Synthase Deficiency, Uroporphyrinogen
  • Uroporphyrinogen Synthase Deficiencies
  • Porphyria, Swedish Type
  • Porphyrias, Swedish Type
  • Swedish Type Porphyria
  • Swedish Type Porphyrias
  • Type Porphyria, Swedish
  • Type Porphyrias, Swedish
  • UPS Deficiency
  • Deficiencies, UPS
  • Deficiency, UPS
  • UPS Deficiencies
  • 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

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