Abstract
In marked HPRT deficiency, hypoxanthine accumulation in CSF is greater than in plasma. The extent of other severe biochemical disturbance could provide further evidence of the mechanisms underlying the severe neural dysfunction.
A generalised reduction of the concentrations of 13 amino acids was found in CSF (mean percentage of control 25.5 range 12-48%) and in 5 regions of brain, 34, 21-75% from the same patient, D, who had normal plasma and urine amino acid levels. A neurotransmitter metabolite, 5-H1AA, in CSF from patient D was slightly reduced but concentrations of metabolites of noradrenaline and dopamine were normal. Another patient had normal amino acid concentrations in CSF, plasma and urine.
Our results on patient D have provided more evidence of the marked reductions in brain amino acid concentrations which have been found in 5 other brains from patients with the Lesch-Nyhan syndrome (Neuropaediatrics 13, 130). Our findings in CSF suggest that such reductions can exist during life and from the normal results in plasma and urine are not due to undernutrition.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Angus Harkness, R. 50 LESCH-NYHAN SYNDROME: REDUCED AMINO ACID CONCENTRATIONS IN CSF AND BRAIN. Pediatr Res 24, 119 (1988). https://doi.org/10.1203/00006450-198807000-00074
Issue Date:
DOI: https://doi.org/10.1203/00006450-198807000-00074