Beneficial Effect of Diabetes on Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is characterized by attacks of abdominal pain and neuropsychiatric symptoms. In northern Sweden, about half of those patients carrying the gene encoding for this condition have experienced attacks with abdominal pain, more frequently and more severely affecting women.

In biochemical terms, AIP is an autosomal hereditary metabolic aberration resulting from a partial defect in the activity of the third-step enzyme (porphobilinogen deaminase [PBGD]) during the course of heme synthesis (1). Carbohydrate ingestion blocks d-aminolevulinic acid (ALA)-synthase, as has been demonstrated in numerous clinical and experimental studies. However, the mechanisms by which carbohydrates modulate the components of porphyrins and heme synthesis are highly complex and only partially elucidated to date (2).

The main long-term complications of AIP are polyneuropathy (3), hepatocellular carcinoma (HCC) (4), and renal insufficiency (5). Treatment of AIP patients entails treating both the symptoms and the complications, but also requires an endeavor to reverse the fundamental …