Ribose-5-phosphate isomerase deficiency
Rare metabolic genetic disorder resulting in leukoencephalopathy / From Wikipedia, the free encyclopedia
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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 only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.[2][3]