Metabolic disorders of purine metabolism affecting the nervous system
HA Jinnah, G Van Den Berghe - Handbook of clinical neurology, 2013 - Elsevier
The purines are a group of molecules used by all cells for many vital biochemical processes
including energy-requiring enzymatic reactions, cofactor-requiring reactions, synthesis of
DNA or RNA, signaling pathways within and between cells, and other processes. Defects in
some of the enzymes of purine metabolism are known to be associated with specific clinical
disorders, and neurological problems may be a presenting sign or the predominant clinical
problem for several of them. This chapter describes three disorders for which the clinical …
including energy-requiring enzymatic reactions, cofactor-requiring reactions, synthesis of
DNA or RNA, signaling pathways within and between cells, and other processes. Defects in
some of the enzymes of purine metabolism are known to be associated with specific clinical
disorders, and neurological problems may be a presenting sign or the predominant clinical
problem for several of them. This chapter describes three disorders for which the clinical …
