Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing

JPGN Reports · 3 authors, 2 centres

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TL;DR

This is a case report describing a formula-fed neonate with acute liver failure that was definitively diagnosed with hereditary fructose intolerance (HFI) using rapid whole exome sequencing (WES). The case highlights the risk of neonatal HFI from fructose additives in infant formulas and the diagnostic utility of rapid genomic sequencing.

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The paper reports on a case of a 17-day-old neonate who presented with acute liver failure (ALF). Expedited whole exome sequencing (WES), completed in 5 days, identified two heterozygous, pathogenic ALDOB gene variants confirming hereditary fructose intolerance (HFI). Immediate transition to a fructose-free formula led to rapid clinical improvement. The authors review literature indicating HFI can present in neonates due to fructose additives in some infant formulas, a fact often missed due to provider training and vague product labeling. The discussion emphasizes that rapid WES can provide a definitive diagnosis quickly, potentially reducing invasive testing and improving outcomes.

STUDY TYPE

case_report

SPECIALTY

pediatrics

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ORIGINAL PAPER

PMC10191584

Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing

JPGN Reports

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ABSTRACT

Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism due to deficiency of the enzyme aldolase B, preventing metabolism of fructose. Patients remain asymptomatic until exposed to fructose, sucrose, or sorbitol. HFI presenting as acute liver failure in the neonatal period is rare due to lack of exposure as breast milk and infant formulas are considered to be fructose free. Diagnosis can be delayed due to vague symptoms and lack of specific biomarkers. Recent advances in genetic testing have led to rapid diagnosis and favorable outcomes. We present the case of a formula-fed neonate who presented with acute liver failure where definitive diagnosis of HFI was made using expedited whole exome sequencing. Through this communication, we aim to bring attention to neonatal presentations of HFI from exposure to fructose in infant formulas and also highlight advances in rapid turnaround genomic testing in diagnosis.

CITATION EXPORT

Jeffrey Lee, Joshua Arenth, Nagraj Kasi. Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing. JPGN Reports. (2021). https://doi.org/10.1097/PG9.0000000000000076

AUTHORS

3 · 2 CENTRES

Jeffrey Lee, Joshua Arenth, Nagraj Kasi

From the *Division of Pediatric Gastroenterology and Hepatology, Medical University of South Carolina, Shawn Jenkins Children’s Hospital, Charleston, SC
†Division of Pediatric Critical Care Medicine, Medical University of South Carolina, Shawn Jenkins Children’s Hospital, Charleston, SC.