• A female newborn infant with Marfanlike 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 ascorbic acid therapy. These observations suggest that a high level of tyrosine in serum can affect the metabolism in the brain of dopamine and serotonin.
(Am J Dis Child 134:492-494, 1980)
Stoerner JW, Butler IJ, Morriss FH, et al. CSF Neurotransmitter Studies: An Infant With Ascorbic Acid-Responsive Tyrosinemia. Am J Dis Child. 1980;134(5):492–494. doi:10.1001/archpedi.1980.02130170042014
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