Association of PRPS1 Mutations with Disease Phenotypes

Figure 1

A schematic representation of purine metabolic pathway. S-adenosylmethionine (SAM) can replenish ATP and GTP independently of PRPP by direct conversion into adenine via the polyamine pathway (indicated by red color). Alternatively, methyltransferases transform SAM into S-adenosylhomocysteine which can be then converted into adenosine and adenine.