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; Acute Intermittent Porphyrias; Acute Porphyrias; Intermittent Porphyrias, Acute; Porphyrias, Acute; Porphyrias, Acute Intermittent

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Digestive System Diseases: 31

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Liver Diseases: 20042

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Hepatic Porphyrias: 267

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Acute Intermittent Porphyria: 748

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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 449

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Inborn Genetic Diseases: 578

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Inborn Errors Metabolism: 434

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Porphyrias: 1178

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Hepatic Porphyrias: 267

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Acute Intermittent Porphyria: 748

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Genetic Skin Diseases: 11

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Hepatic Porphyrias: 267

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Acute Intermittent Porphyria: 748

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Skin and Connective Tissue Diseases

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Skin Diseases: 6187

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Genetic Skin Diseases: 11

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Hepatic Porphyrias: 267

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Acute Intermittent Porphyria: 748

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Metabolic Skin Diseases

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Porphyrias: 1178

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Hepatic Porphyrias: 267

*

Acute Intermittent Porphyria: 748

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Nutritional and Metabolic Diseases

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Metabolic Diseases: 1406

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Porphyrias: 1178

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Hepatic Porphyrias: 267

*

Acute Intermittent Porphyria: 748

-

Inborn Errors Metabolism: 434

-

Porphyrias: 1178

-

Hepatic Porphyrias: 267

*

Acute Intermittent Porphyria: 748

-

Metabolic Skin Diseases

-

Porphyrias: 1178

-

Hepatic Porphyrias: 267

*

Acute Intermittent Porphyria: 748

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