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Related Experiment Videos

Citrullinemia presenting as uncontrollable epilepsy.

Y Origuchi, T Ushijima, M Sakaguchi

    Brain & Development
    |January 1, 1984
    PubMed
    Summary

    Variant citrullinemia in a teen was treated with diet and sodium benzoate, normalizing ammonia levels and resolving epilepsy symptoms. This suggests hyperammonemia, not just citrulline levels, caused EEG abnormalities.

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    Area of Science:

    • Biochemistry
    • Neurology
    • Genetics

    Background:

    • Citrullinemia is a rare urea cycle disorder.
    • Hyperammonemia can cause neurological symptoms, including seizures and EEG changes.

    Observation:

    • A 16-year-old female presented with uncontrolled epilepsy and diagnosed with variant citrullinemia.
    • Elevated serum citrulline, high blood ammonia, and reduced argininosuccinate synthetase activity confirmed the diagnosis.
    • EEG showed slow wave activity during hyperammonemia, but notably lacked triphasic waves.

    Findings:

    • Treatment with a low-protein diet and sodium benzoate normalized blood ammonia levels.
    • Plasma citrulline levels remained elevated despite treatment.
    • Epilepsy resolved, with no seizures or EEG abnormalities observed even after discontinuing anticonvulsants.

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    Implications:

    • Hyperammonemia, rather than elevated citrulline alone, may be the primary driver of neurological dysfunction in this variant citrullinemia case.
    • The absence of triphasic waves in this hyperammonemic patient challenges their universal diagnostic significance.
    • Effective management of hyperammonemia can lead to complete resolution of neurological symptoms in certain urea cycle disorders.