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Updated: Sep 14, 2026

Measuring Oral Fatty Acid Thresholds, Fat Perception, Fatty Food Liking, and Papillae Density in Humans
10:29

Measuring Oral Fatty Acid Thresholds, Fat Perception, Fatty Food Liking, and Papillae Density in Humans

Published on: June 4, 2014

[Clinical heterogeneity in fructose intolerance]

C Borrone, G Lamedica, M Di Rocco

    La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
    |May 1, 1982
    PubMed

    Insights

    Hereditary fructose intolerance (HFI) in infants often presents with vomiting and failure to thrive, requiring early diagnosis. A fructose-free diet is crucial for survival, highlighting the need for pediatrician awareness.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Context:

    • Hereditary fructose intolerance (HFI) is a rare metabolic disorder.
    • Diagnosis in infants is often delayed, leading to severe health consequences.
    • This study focuses on eight infants diagnosed with HFI.

    Purpose:

    • To describe the clinical presentation and diagnostic challenges of HFI in infants.
    • To emphasize the importance of early diagnosis and dietary management.
    • To report a co-occurring case of Fructose-1,6-diphosphatase deficiency.

    Summary:

    • Eight infants diagnosed with HFI via fructose tolerance tests and liver aldolase assays presented with vomiting and failure to thrive.
    • Hepatomegaly and abnormal liver function tests were common; hypoglycemia occurred in 3 patients.
    • Two infants died, while six survived and are well on a fructose-free diet.

    Impact:

    • Highlights the critical role of pediatricians in recognizing HFI symptoms and understanding infant nutrition.
    • Stresses the danger of fructose-containing solutions in infusion therapy.
    • Underscores the necessity of prompt diagnosis and lifelong dietary adherence for HFI management.

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