Molecular genetics of acute intermittent porphyria.

Molecular Genetics of Acute Intermittent Porphyria in Finland

Neurological manifestations and molecular genetics of acute intermittent porphyria in North Western Russia

Feigning Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning this illness has not been reported in the English language literature to date. Here, we report on a patient who presented to the hospital with...

Acute intermittent porphyria after gastroplasty.

A 28-year-old female underwent gastroplasty for obesity in an uneventful procedure. This was followed within five days by persistent abdominal pain associated with weakness that progressed to generalized flaccid quadriparesis. She developed respiratory distress, and required intubation. Cerebrospinal fluid (CSF) revealed a normal cell count and elevated total protein. Her folate and vitamin B12...

Acute intermittent porphyria treated by testosterone implant.

The hereditary disorder acute intermittent porphyria is potentially fatal. Many more females present with active disease than males and some have attacks related to their menstrual cycle and pregnancy. We present a female patient who was diagnosed while pregnant at 19 years. She subsequently developed life-threatening attacks pre-menstrually at 24 years; these were associated with weight loss. ...