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Archived Comments for: Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report

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  1. Query on potential correlation between serum LDH and seizure

    Kam Cheong Wong, The University of Sydney

    25 November 2015

    Dear authors,

    Thank you for sharing this critical case. This case could improve clinical acumen in diagnosing and treating hyperammonic coma secondary to ornithine transcarbamylase (OTC) deficiency.

    In your discussion, you have mentioned that "seizures have been reported rarely as the first manifestation of OTC deficiency".   Your case could raise awareness about atypical clinical presentation of OTC deficiency. On the other hand, other researchers have hypothesized that serum LDH may increase the excitability of neurons leading to seizure [1, 2].  Hence,  I would like to know whether you have data about the patient's serum LDH level before, during, and after a seizure or the time-course of the serum LDH during the admission?

    I appreciate your efforts.

    Thank you.

    Yours sincerely,

    Dr. Kam Cheong Wong

    MBBS, BE, MSc, FRACGP.

     References:

    [1] Rho, J.M., Inhibition of Lactate Dehydrogenase to Treat Epilepsy. N Engl J Med, 2015. 373(2): p. 187-9.

    [2] Sada, N., et al., Epilepsy treatment. Targeting LDH enzymes with a stiripentol analog to treat epilepsy. Science, 2015. 347(6228): p. 1362-7.

    Competing interests

    I do not have any competing interest in the content of and response to this article.

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