Disorders of purines and pyrimidines.
Handb Clin Neurol
; 120: 827-38, 2014.
Article
en En
| MEDLINE
| ID: mdl-24365355
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Purinas
/
Pirimidinas
/
Enfermedades Metabólicas
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
En
Año:
2014
Tipo del documento:
Article