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Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance

A Hosková, A Mrskos

    European Journal of Pediatrics
    |December 30, 1977
    PubMed

    Insights

    Hereditary fructose intolerance caused severe health issues in an infant, including skin bleeding and organ damage. A fructose-free diet successfully reversed these dangerous symptoms.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Background:

    • Hereditary fructose intolerance (HFI) is a rare metabolic disorder.
    • It results from a deficiency in the enzyme fructose-1-phosphate aldolase.
    • This enzyme is crucial for metabolizing fructose, sucrose, and sorbitol.

    Observation:

    • A three-week-old infant presented with significant skin hemorrhages.
    • Further investigations revealed severe liver damage, hypofibrinogenemia, and impaired prothrombin complex.
    • Renal tubular dysfunction was also identified in the infant.

    Findings:

    • The infant's severe pathological symptoms were directly linked to hereditary fructose intolerance.
    • The symptoms included bleeding disorders and impaired liver and kidney function.
    • These clinical manifestations were reversed upon the implementation of a fructose-free diet.

    Implications:

    • Early diagnosis and dietary management are critical for infants with hereditary fructose intolerance.
    • Prompt intervention can prevent severe complications and ensure normal development.
    • This case highlights the importance of considering metabolic disorders in neonates presenting with unexplained bleeding and organ dysfunction.

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