1.
J Clin Invest
; 51(6): 1398-404, 1972 Jun.
Artículo
en Inglés
| MEDLINE
| ID: mdl-5024037
RESUMEN
Inosinic acid dehydrogenase was evaluated in normal subjects and in patients with the Lesch-Nyhan syndrome. A significant difference in activity was found between erythrocytes derived from normal controls (1.21+/-0.47 pmoles/hr per mg protein) and from 15 patients with the Lesch-Nyhan syndrome (6.72+/-6.23 pmoles/hr per mg protein). However, no difference in activity was demonstrable in muscle or leukocytes derived from normal and Lesch-Nyhan patients. The increased activity of inosinic acid dehydrogenase in erythrocytes from patients with the Lesch-Nyhan syndrome is due to stabilization of the enzyme in vivo as well as the absence of an inhibitor which is present in erythrocytes from normal subjects.
Asunto(s)
Eritrocitos/enzimología , Oxidorreductasas/metabolismo , Errores Innatos del Metabolismo de la Purina-Pirimidina/enzimología , Análisis de Varianza , Atetosis , Isótopos de Carbono , Nucleótidos de Guanina/biosíntesis , Humanos , Nucleótidos de Inosina , Discapacidad Intelectual , Síndrome de Lesch-Nyhan/sangre , Síndrome de Lesch-Nyhan/enzimología , Nucleótidos/biosíntesis , Oxidorreductasas/sangre , Automutilación , Transferasas/sangre
2.
Biochim Biophys Acta
; 364(2): 209-17, 1974 Oct 17.
Artículo
en Inglés
| MEDLINE
| ID: mdl-4371273