Acute Intermittent Porphyria (Neurologic)

Acute intermittent porphyria is an autosomal dominant disorder of heme biosynthesis caused by porphobilinogen deaminase deficiency, leading to accumulation of neurotoxic porphyrin precursors. Neurological manifestations include severe abdominal pain, peripheral neuropathy, autonomic dysfunction, seizures, and psychiatric symptoms. Attacks are precipitated by medications, hormonal changes, fasting, or stress. Diagnosis is confirmed by elevated urinary porphobilinogen and delta-aminolevulinic acid, supplemented with genetic testing. Management involves hospitalization, trigger avoidance, carbohydrate loading, and intravenous hemin administration, with early intervention critical to prevent permanent neurological damage.