Article
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Molecular genetics and metabolism - 1 Apr 2018
Li Hong, Byers Heather M, Diaz-Kuan Alicia, Vos Miriam B, Hall Patricia L, Tortorelli Silvia, Singh Rani, Wallenstein Matthew B, Allain Meredith, Dimmock David P, Farrell Ryan M, McCandless Shawn, Gambello Michael J
Abstract excerpt
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic disturbances, including postprandial hypoglycemia, lactic acidosis, electrolyte disturbance, and liver/kidney dysfunction. The clinical presentation varies depending...
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