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Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27.

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

Author information

1
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. Electronic address: Hong.Li@emory.edu.
2
Division of Medical Genetics, Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, CA, United States.
3
Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States.
4
Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, United States.
5
EGL Genetics, Tucker, GA, United States.
6
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
7
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.
8
Division of Neonatal and Developmental Medicine, Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, CA, United States.
9
Rady Children's Institute for Genomic Medicine, San Diego, CA, United States.
10
Department of Pediatrics, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, United States.
11
Department of Pediatrics, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, United States; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, United States.

Abstract

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.

KEYWORDS:

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

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