CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia
J. W. Stoerner, I. J. Butler, F. H. Morriss Jr, R. R. Howell, W. E. Seifert Jr, R. M. Caprioli, E. W. Adcock 3rd and S. E. Denson
A female newborn infant with Marfan-like habitus experienced lethargy and
hypothermia associated with tyrosinemia that was not corrected by the
administration of ascorbic acid at 50 mg/day but that subsequently
responded to ascorbic acid at 500 mg/day. Cerebrospinal fluid analysis for
neurotransmitter metabolites showed elevated concentrations of homovanillic
acid and 5-hydroxyindoleacetic acid when the child was symptomatic and
normal concentrations after successful ascrobic acid therapy. These
observations suggest that a high level of tyrosine in serum can affect the
metabolism in the brain of dopamine and serotonin.