Hereditary Fructose Intolerance (HFI), the ALDOB Gene, and Factor V Leiden
Hereditary Fructose Intolerance (HFI) is a rare but potentially serious inherited metabolic disorder caused by mutations in the ALDOB gene. People with HFI are unable to properly metabolize fructose, leading to toxic metabolic effects after consuming fructose-containing foods. Interest in HFI has increased as more people analyze direct-to-consumer genetic data and discover markers such as i5012665, which corresponds to the ALDOB variant rs387906225, sometimes called the Delta4E4 mutation. Many individuals also explore whether HFI-related findings coexist with other inherited conditions, including Factor V Leiden, a separate genetic mutation associated with increased blood clotting risk. This article explains the biology of HFI, the role of the ALDOB gene, the significance of the i5012665 marker, how HFI differs from fructose malabsorption, and the relationship between HFI and Factor V Leiden. What Is Hereditary Fructose Intolerance? Hereditary Fructose Intolerance is an i...