Article
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Human mutation - 1 Dec 2010
Esposito Gabriella, Imperato Maria Rosaria, Ieno Luigi, Sorvillo Rosa, Benigno Vincenzo, Parenti Giancarlo, Parini Rossella, Vitagliano Luigi, Zagari Adriana, Salvatore Francesco
Abstract excerpt
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. The residual catalytic...
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