Abstract
A 12 year patient with marked hyperuricemia, tetraspasticity,choreoatleotosis,dysarthia and mental retardation was recently referred for a sudden development of a rapidly increasing autoagressive behaviour. Erythrocyte HPRT activity was virtually nil.Lysates of fibroblasts showed values 2.6% of the controls.The hypoxanthine utilisation in intact fibroblasts was 3% in the patient and 35% in his mothers cells.Cell growth in the 8azaguanine and HAT was almost in the range of classical type and the mother showed heterozygosity.
Surprisingly,the level of dopamine,5HT and biopterin was significantly increased in the urine of unmedicated patient.Further biochemical data encompassing neurotransmitters,immunology,purine metabolism and cell selection would be presented.
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Sing, S., Willers, I., Ullrich, K. et al. A CASE OF LESCH NYHAN SYNDROME WITH DELAYED ONSET OF SELF MUTILATION: A search for abnormal biochemical, immunological and cell growth characteristics in fibroblasts and neurotransmitters in urine: 194. Pediatr Res 19, 776 (1985). https://doi.org/10.1203/00006450-198507000-00214
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DOI: https://doi.org/10.1203/00006450-198507000-00214