Ribose-5-phosphate isomerase deficiency
| Ribose-5-phosphate isomerase deficiency | |
|---|---|
| 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 only four known cases – all diagnosed between 1984 and 2019 – RPI deficiency is the second rarest disease, with Fields condition being the rarest, affecting two known individuals, Catherine and Kirstie Fields.[2][3]
- ^ "OMIM Entry - # 608611 - Ribose 5-Phosphate Isomerase Deficiency". omim.org. Retrieved 16 March 2019.
- ^ Wamelink, M. M.; Grüning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". J. Mol. Med. 88 (9): 931–39. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
- ^ Dalling, Robert (2017-02-10). "These twins are 'trapped' in their living room as work plans stall". WalesOnline. Retrieved 2021-07-31.