Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

@article{Coffee2009IncreasedPO,
  title={Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population},
  author={Erin M. Coffee and Laura Yerkes and Elizabeth P. Ewen and Tiffany Zee and Dean R. Tolan},
  journal={Journal of Inherited Metabolic Disease},
  year={2009},
  volume={33},
  pages={33-42}
}
Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the prevalence of seven known HFI-causing alleles (A149P, A174D, N334K, Δ4E4, R59Op, A337V… CONTINUE READING