Abstract
HPRT activity, enzyme kinetics, hypoxanthine uptake and cell growth in selection media has been studied in the cultured fibroblasts from a collective of 22 patients with different forms of HPRT deficiency. From the data it becomes apparent that the clinical manifestation can be best correlated to the ability of the cells of the patients to utilise hypoxanthine and growth resistance to its analogue metabolites, thus permitting a worthwhile prognosis. Because of the unreliability of the HPRT assay due to mycoplasma contamination, the assay of the purine utalisation in cultured cells and their selection could give a better and reliable assessment of the inherent mutation. These specific parameter have therefore also been assayed in cultured amniotic and chorionic villi cells to standardise the culture conditions and the laboratory norm values for their potential use in the diagnosis and prenatal monitoring.
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Sing, S., Willers, I., Held, K. et al. INVESTIGATION OF PURINE UTILISATION IN CULTURED FIBROBLASTS, AMNIOCYTES AND CHORIONIC VILLI : AN ATTEMPT TOWARDS UNDERSTANDING CLINICAL VARIABILITY IN LESCH NYHAN SYNDROME: 195. Pediatr Res 19, 776 (1985). https://doi.org/10.1203/00006450-198507000-00215
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DOI: https://doi.org/10.1203/00006450-198507000-00215
