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Hereditary fructosuria

From SNPedia


There are many known mutations in the ALDOB gene that cause hereditary fructosuria.

23andMe reports on the four most common mutations accounting for about 75% of the HFI-causing mutations in those of European ancestry:

  • rs1800546, aka A149P, accounting for 65% of all HFI-causing mutations; 1% of all Brits carry a copy
  • rs76917243 or i5008215, aka A174D; accounts for 11-14% of the HFI-causing mutations
  • rs78340951 or i5012664, aka N334K; 5-8% of people with HFI
  • i5012665, aka delta4E4; about 3% of the HFI-causing mutations