Disorders of purines and pyrimidines

Handbook of Clinical Neurology
Roger E Kelley, Hans C Andersson

Abstract

Disorders of purine and pyrimidine metabolism can result in an array of clinical manifestations including neurologic manifestations. The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distinctive feature of self-mutilation. Expansion of our knowledge with molecular genetic methodology has helped to better identify and characterize mutations such as those which occur with the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT), and this has enhanced our understanding of phenotypical expression of Lesch-Nyhan syndrome and Lesch-Nyhan variants. It is hoped that further elucidation of DNA coding regions and messenger RNA expression will lead to the potential for gene therapy to correct these inborn errors of purine and pyrimidine metabolism.

Citations

Jun 29, 2014·Journal of Inherited Metabolic Disease·Shanti BalasubramaniamJohn Christodoulou
May 20, 2020·Journal of Animal Breeding and Genetics = Zeitschrift Für Tierzüchtung Und Züchtungsbiologie·Bianca Ferreira OlivieriFernando Baldi
Mar 31, 2018·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Josephine C McGowanChristine A Denny
Nov 13, 2019·Scientific Reports·Camilla Albertina Dantas de LimaSergio Crovella
Sep 24, 2021·Stress : the International Journal on the Biology of Stress·Aikaterini IliouMichaela D Filiou

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