CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.
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 ascrobic acid therapy. These observations suggest that a high level of tyrosine in serum can affect the metabolism in the brain of dopamine and serotonin.
D001205:Ascorbic Acid / Q000627:therapeutic use; D005260:Female; D006018:Glycols / Q000134:cerebrospinal fluid*; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid*; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid*; D007231:Infant, Newborn; D007234:Infant, Premature; D008382:Marfan Syndrome / Q000097:blood / Q000134:cerebrospinal fluid; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid*; D010648:Phenylacetates / Q000134:cerebrospinal fluid*; D014443:Tyrosine / Q000097:blood*
D006018:Glycols; D010648:Phenylacetates; D014443:Tyrosine; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D001205:Ascorbic Acid; D006719:Homovanillic Acid