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Related Experiment Videos

CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.

J W Stoerner, I J Butler, F H Morriss

    American Journal of Diseases of Children (1960)
    |May 1, 1980
    PubMed
    Summary

    High-dose ascorbic acid (vitamin C) therapy corrected tyrosinemia-related neurological issues in a newborn. This treatment normalized neurotransmitter levels, suggesting vitamin C

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    Area of Science:

    • Biochemistry
    • Neuroscience
    • Pediatrics

    Background:

    • Tyrosinemia, a metabolic disorder, can present with neurological symptoms in newborns.
    • Marfan-like habitus may be associated with metabolic conditions.
    • Ascorbic acid (vitamin C) plays a role in neurotransmitter synthesis.

    Observation:

    • A female newborn with Marfan-like habitus presented with lethargy and hypothermia.
    • Symptoms were initially unresponsive to a low dose of ascorbic acid (50 mg/day).
    • Significant improvement was observed after increasing ascorbic acid dosage to 500 mg/day.

    Findings:

    • Cerebrospinal fluid analysis revealed elevated homovanillic acid and 5-hydroxyindoleacetic acid during symptomatic periods.
    • These neurotransmitter metabolite levels normalized following successful ascorbic acid therapy.

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  • The findings indicate a potential link between serum tyrosine levels and brain dopamine/serotonin metabolism.

    • Implications:

    • High serum tyrosine concentrations may disrupt central nervous system neurotransmitter synthesis or breakdown.
    • This case highlights the importance of considering metabolic disorders in newborns with unexplained symptoms.
    • Optimizing ascorbic acid dosage may be crucial for managing certain metabolic derangements in tyrosinemia.