Acute Intermittent Porphyria

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.

Also Known As:

Porphyria, Acute; Intermittent Porphyria, Acute; Acute Porphyria; Porphyria, Acute Intermittent; PBGD Deficiency; Porphobilinogen Deaminase Deficiency; Porphyria, Swedish Type; UPS Deficiency; Acute Intermittent Porphyrias; 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; Intermittent Porphyrias, Acute; PBGD Deficiencies; Porphobilinogen Deaminase Deficiencies; 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; Uroporphyrinogen Synthase Deficiencies; Hydroxymethylbilane Synthase Deficiency; Uroporphyrinogen Synthase Deficiency

Digestive System Diseases: 1068
- Liver Diseases: 42767
  - Hepatic Porphyrias: 341
    - Acute Intermittent Porphyria: 1232
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Hepatic Porphyrias: 341
      - Acute Intermittent Porphyria: 1232
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Genetic Skin Diseases: 51
    - Hepatic Porphyrias: 341
      - Acute Intermittent Porphyria: 1232
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Porphyrias: 1732
    - Hepatic Porphyrias: 341
      - Acute Intermittent Porphyria: 1232

Sonia Pascual Bartolome Selected Research

Sonia Pascual Bartolome Research Topics

Disease

Therapy/Procedure