Cerebrospinal Fluid Cyclic Nucleotide Alterations in the Lesch-Nyhan Syndrome
Attempts to explain the mechanisms responsible for the various neurologic manifestations of the Lesch-Nyhan syndrome have been hampered by an incomplete understanding of the neurochemical and purinergic derangements that exist in the central nervous systems of these boys. We have serially monitored cerebrospinal fluid (CSF) in 4 subjects with the Lesch-Nyhan syndrome to investigate the correlation of clinical neurologic manifestations with either excesses or deficiencies of monoamine transmitter or purine metabolites. We have previously reported our findings of altered monoamine metabolites in the Lesch-Nyhan spinal fluids (1) as well as the correlation of these abnormalities with elevations of purine bases in the CSF (2). Other spinal fluid studies in these patients addressed the effect of allopurinol therapy on spinal fluid levels of hypoxanthine and xanthine (3). We have extended our inquiry into the abnormalities of Lesch-Nyhan spinal fluid by measuring cyclic nucleotide (cyclic AMP and cyclic GMP) levels.
KeywordsCyclic Nucleotide Spinal Fluid Level Cyclic Nucleotide Level Purine Metabolite HPRT Deficiency
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