Porphyria, Acute Intermittent


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.