Ribose-5-phosphate isomerase deficiency | |
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Other names | RPI 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]