Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.
Division of Medical Genetics, Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, CA, United States.
Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27.
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.
遗传性果糖不耐受症（HFI）是一种常染色体隐性遗传病，由醛缩酶 B（ALDOB）缺乏引起，导致无法代谢果糖。中间产物果糖-1-磷酸的毒性积累会引起多种代谢紊乱，包括餐后低血糖、乳酸性酸中毒、电解质紊乱和肝/肾功能障碍。临床表现取决于暴露年龄和果糖负荷。一些常见的婴儿配方奶粉含有不同形式的果糖，如蔗糖，是果糖和葡萄糖的二糖。摄入含果糖的配方奶粉是 HFI 发生严重代谢紊乱的一个重要但常被忽视的诱因。本研究报告了 4 例未确诊的 HFI 新生儿，均由 ALDOB 基因 c.448G>C（p.A150P）引起，该突变为常见的纯合突变，均因摄入含果糖的配方奶粉而导致危及生命的急性肝衰竭。这些病例强调了在新生儿或婴儿期急性肝衰竭的情况下，饮食史和对 HFI 的考虑对于及时诊断和治疗 HFI 的重要性。
