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[A patient with persistent hyperlysinemia]

R C Sengers, J M Trijbels, J B Corstiaensen

    Tijdschrift Voor Kindergeneeskunde
    |February 1, 1983
    PubMed

    Insights

    A child with developmental delays and seizures had high lysine levels in blood and urine. A low-lysine diet showed promising results for this rare metabolic disorder.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Background:

    • Lysinuria is a rare inherited metabolic disorder affecting amino acid transport.
    • It is characterized by defects in renal and intestinal absorption of dibasic amino acids, including lysine.

    Observation:

    • A 3-year-old boy presented with global developmental delay, including impaired motor, speech, and social skills, alongside recurrent convulsions.
    • Clinical biochemical analysis revealed persistent hyperlysinemia (elevated blood lysine), lysinuria (excess lysine in urine), and saccharopinuria (excess saccharopine in urine).

    Findings:

    • The patient's biochemical profile is consistent with a diagnosis of lysinuria.
    • The observed symptoms, including developmental deficits and seizures, are associated with this condition.

    Implications:

    • Dietary management, specifically restricting lysine intake, appears to be a potentially effective therapeutic strategy.
    • Early diagnosis and intervention through dietary modification may improve developmental outcomes and reduce seizure frequency in affected children.

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