CSF Neurotransmitter Studies: An Infant With Ascorbic Acid-Responsive Tyrosinemia

Joan W. Stoerner, Ian J. Butler, Frank H. Morriss, R. Rodney Howell, William E. Seifert, Richard M. Caprioli, Eugene W. Adcock, Susan E. Denson

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

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 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.

Original languageEnglish (US)
Pages (from-to)492-494
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume134
Issue number5
DOIs
StatePublished - May 1980
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Stoerner, J. W., Butler, I. J., Morriss, F. H., Howell, R. R., Seifert, W. E., Caprioli, R. M., Adcock, E. W., & Denson, S. E. (1980). CSF Neurotransmitter Studies: An Infant With Ascorbic Acid-Responsive Tyrosinemia. American Journal of Diseases of Children, 134(5), 492-494. https://doi.org/10.1001/archpedi.1980.02130170042014