Abstract
Hypoxanthiye-guanine phosphoribosyltransferase (HGPRT: EC 2.4.2.8) deficiency is an X-linked recessive disorder which may present in early infancy as the Lesch-Nyhan syndrome associated with gross purine overproduction, neurological abnormalities and bizarre self-mutilating behaviour. Less severe forms have been reported in adults with gouty arthritis and/or renal complications but a complete absence of neurological abnormalities1.
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References
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© 1984 Plenum Press, New York
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Simmonds, H.A., Webster, D.R., Wilson, J., Potter, C.F., Fairbanks, L.D. (1984). Evidence of A New Syndrome Involving Hereditary Uric Acid Overproduction, Neurological Complications and Deafness. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4553-4_17
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DOI: https://doi.org/10.1007/978-1-4684-4553-4_17
Publisher Name: Springer, Boston, MA
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