Such an event is technically called mutation. When mutation occurs in the RPI gene from which Ribose-5-phosphate isomerase enzyme is produced, RPI deficiency is caused.
Ribose 5-phosphate isomerase deficiency 608611 Autosomal recessive 3 RPIA 180430 TEXT A number sign (#) is used with this entry because of evidence that ribose 5-phosphate
Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18.