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.
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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