Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas

作者：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

来源：Molecular Genetics and Metabolism, 2018, 123(4): 428-432.

DOI：10.1016/j.ymgme.2018.02.016

• Hereditary fructose intolerance
• Acute liver failure
• Neonates
• Infant formula
• Diet

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 on the age of exposure and the load of fructose. Some common infant formulas contain fructose in various forms, such as sucrose, a disaccharide of fructose and glucose. Exposure to formula containing fructogenic compounds is an important, but often overlooked trigger for severe metabolic disturbances in HFI. Here we report four neonates with undiagnosed HFI, all caused by the common, homozygous mutation c.448G > C (p.A150P) in ALDOB, who developed life-threatening acute liver failure due to fructose-containing formulas. These cases underscore the importance of dietary history and consideration of HFI in cases of neonatal or infantile acute liver failure for prompt diagnosis and treatment of HFI.

• 出版日期2018-4