Porphyria, Acute Intermittent D017118

Related MeSH Hierarchy (4)

Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Porphyrias, Hepatic » Porphyria, Acute Intermittent

Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Porphyrias, Hepatic » Porphyria, Acute Intermittent

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Porphyrias » Porphyrias, Hepatic » Porphyria, Acute Intermittent

Description

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.   MeSH

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Approved Indicated Drugs (2)

Phase 3 Indicated Drugs (1)

Phase 2 Indicated Drugs (1)


Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 2 Indications (3)

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