Determination, activity and biological role of adenylosuccinate lyase in blood cells

Adenylosuccinate lyase deficiency, which is associated with severe mental r etardation and autistic features, was discovered in 1984. Since then this e nzyme has been analyzed in many human tissues and it is now generally agree d that screening for this enzyme defect should be performed in all unexplai ned neurological diseases. The aim of the present study was to analyze aden ylosuccinate lyase activity in blood cells by a fast simple method adaptabl e to screening purposes. The activity was also analyzed in B-lymphocytes fr om patients with B-cell chronic lymphocytic leukemia. The biological role o f adenylosuccinate lyase and its importance in regulating cellular levels o f AMP is discussed. (C) 2001 Editions scientifiques et medicales Elsevier S AS.