A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.

Abstract excerpt

Acute intermittent porphyria (AIP), an autosomal dominant disorder, is divided into two forms, the classical form (more than 95%) and the non-erythroid variant form, according to erythroid porphobilinogen deaminase (PBGD) activity. In the variant form, the PBGD activity is essentially normal. Detection of presymptomatic mutation carriers relies on a DNA test. This variant form of AIP is very rare, with only nine...

Topics

• Adult
• Humans
• Hydroxymethylbilane Synthase
• Male
• Mutation
• Porphyria, Acute Intermittent