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CSF Neurotransmitter StudiesAn Infant With Ascorbic Acid-Responsive Tyrosinemia
Joan W. Stoerner, MD;
Ian J. Butler, MB, FRACP;
Frank H. Morriss, Jr, MD;
R. Rodney Howell, MD;
William E. Seifert, Jr, PhD;
Richard M. Caprioli, PhD;
Eugene W. Adcock III, MD;
Susan E. Denson, MD
Am J Dis Child. 1980;134(5):492-494.
Abstract
• 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)
Author Affiliations
From the Departments of Pediatrics (Drs Stoerner, Morriss, Howell, Adcock, and Denson), Neurology (Dr Butler), and Biochemistry (Drs Seifert and Caprioli), Medical School, the University of Texas Health Science Center at Houston.
Footnotes
Reprint requests to Department of Pediatrics, University of Texas Medical School, 6431 Fannin St, Houston, TX 77030 (Dr Morriss).
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