But in one out of every 100 live births, a defective enzyme gene occurs, resulting in a partially or completely non-functioning enzyme. Metabolic diseases are inherited and are present from birth, although the disease may first manifest itself at any age. The resultant metabolic diseases, which can occur in any area of human metabolism, could affect our lives or the life of someone close to us. Some other diseases are obviously inherited metabolic disorders, but researchers have not yet identified the defective enzyme. The class of chemical compounds known as purines was first encountered in a waste product of metabolism known as uric acid , which causes gout.
All purines share the basic nine-membered ring structure shown below.
The Purine Nucleus. Compound Abbreviations Enzyme Names and Reaction Pathways Figure 2. As energy transducers , they convert the energy produced by the oxidation of food molecules to a form which the cell can use to satisfy its energy needs. In cellular signaling processes , such as nerve conduction and muscle contraction, they act as messengers. As a disposal mechanism , they rid cells of excess nitrogen.