Abstract
In a patient with the Lesch-Nyhan syndrome we found decreased spinal fluid 5-hydroxyindole acetic acid (5-HIAA), the major metabolite of serotonin, and decreased homovanillic acid (HVA), the major metabolite of dopamine, indicating a decrease in monoamine metabolism. Administration of 5-hydroxytryptophan and carbidopa produced an increase in spinal fluid 5-HIAA, indicating that it might be possible to correct the serotonin deficiency in this syndrome, but there were no changes in the marked mental retardation and neurological deficits. Self-mutilation appeared to be suppressed by therapy but the effectiveness of the drugs decreased with time. There were also changes in the spinal fluid concentration of amino acids that might affect brain protein synthesis. These changes were corrected during administration of 5-hydroxytryptophan and carbidopa.
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This work has been supported by Grants RR-318 and RR00827 from the Clinical Research Centers Program of the Division of Research Resources and Grant No. GM17702 from the National Institute of General Medical Sciences, National Institutes of Health, Bethesda, Maryland. The authors wish to express their deep appreciation to Ms. Jacquelyne S. Bayer for her outstanding secretarial assistance, Mr. Emanual Agyare for his technical assistance, and the pediatric nurses under the supervision of Mrs. Wilma Friday who collaborated with excellence and enthusiasm in the care of this child.
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Castells, S., Chakrabarti, C., Winsberg, B.G. et al. Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome. J Autism Dev Disord 9, 95–103 (1979). https://doi.org/10.1007/BF01531296
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DOI: https://doi.org/10.1007/BF01531296