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Article
May 1980

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

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.

Am J Dis Child. 1980;134(5):492-494. doi:10.1001/archpedi.1980.02130170042014
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)

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