Ribose-5-phosphate isomerase deficiency

Ribose-5-phosphate isomerase deficiency
Other namesRPI deficiency[1]

Ribose-5-phosphate isomerase deficiency (RPID) is a rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With four diagnosed patients over a 27-year period,[needs update?] RPI deficiency is the second rarest disease known as of now,[when?] with Fields condition being the rarest, affecting two known individuals, Catherine and Kirstie Fields.[2][3]

  1. ^ "OMIM Entry - # 608611 - Ribose 5-Phosphate Isomerase Deficiency". omim.org. Retrieved 16 March 2019.
  2. ^ Dalling, Robert (2017-02-10). "These twins are 'trapped' in their living room as work plans stall". WalesOnline. Retrieved 2021-07-31.