Porphyria, Acute Intermittent
Synonyms
Acute Intermittent Porphyria
Acute Intermittent Porphyrias
Acute Porphyria
Acute Porphyrias
Deaminase Deficiencies, Porphobilinogen
Deaminase Deficiency, Porphobilinogen
Deficiencies, Hydroxymethylbilane Synthase
Deficiencies, PBGD
Deficiencies, Porphobilinogen Deaminase
Deficiencies, UPS
Deficiencies, Uroporphyrinogen Synthase
Deficiency, Hydroxymethylbilane Synthase
Deficiency, PBGD
Deficiency, Porphobilinogen Deaminase
Deficiency, UPS
Deficiency, Uroporphyrinogen Synthase
Hydroxymethylbilane Synthase Deficiencies
Hydroxymethylbilane Synthase Deficiency
Intermittent Porphyria, Acute
Intermittent Porphyrias, Acute
PBGD Deficiencies
PBGD Deficiency
Porphobilinogen Deaminase Deficiencies
Porphobilinogen Deaminase Deficiency
Porphyria, Acute
Porphyria, Swedish Type
Porphyrias, Acute
Porphyrias, Acute Intermittent
Porphyrias, Swedish Type
Swedish Type Porphyria
Swedish Type Porphyrias
Synthase Deficiencies, Hydroxymethylbilane
Synthase Deficiencies, Uroporphyrinogen
Synthase Deficiency, Hydroxymethylbilane
Synthase Deficiency, Uroporphyrinogen
Type Porphyria, Swedish
Type Porphyrias, Swedish
UPS Deficiencies
UPS Deficiency
Uroporphyrinogen Synthase Deficiencies
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.
See Also