Article
Stabilization of the predominant disease-causing aldolase variant (A149P) with zwitterionic osmolytes.
Biochemistry - 8 Feb 2011
Stopa Jack D, Chandani Sushil, Tolan Dean R
Abstract excerpt
Hereditary fructose intolerance (HFI) is a disease of carbohydrate metabolism that can result in hyperuricemia, hypoglycemia, liver and kidney failure, coma, and death. Currently, the only treatment for HFI is a strict fructose-free diet. HFI arises from aldolase B deficiency, and the most predominant HFI mutation is an alanine to proline substitution at position 149 (A149P). The resulting aldolase B with the...
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