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 journalArticlepeer-review

10 Scopus citations


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
Issue number5
StatePublished - May 1980
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'CSF Neurotransmitter Studies: An Infant With Ascorbic Acid-Responsive Tyrosinemia'. Together they form a unique fingerprint.

Cite this