What are the symptoms of Acute Intermittent Porphyria?

Acute Intermittent Porphyria (AIP) is a rare metabolic disorder caused by a partial deficiency in the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase. This enzyme is essential for heme synthesis, and its deficiency results in an accumulation of porphyrin precursors. Specifically, this enzyme catalyzes the conversion of porphobilinogen to hydroxymethylbilane, a key step in heme biosynthesis.
Neurological Symptoms

Patients may experience peripheral neuropathy manifesting as tingling, numbness, or burning sensation in the extremities. In severe cases, motor neuropathy can lead to muscle weakness or even paralysis. Mental status changes such as anxiety, confusion, or hallucinations may also occur.
Identification of AIP in Patients with Abdominal Pain

For patients presenting with severe abdominal pain and neurological symptoms, AIP should be considered. Any recent changes in medications, hormonal fluctuations, or other potential triggers should be identified through a thorough medical history.