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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 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.
Ribose-5-phosphate isomerase (Rpi) encoded by the RPIA gene is an enzyme (EC 5.3.1.6) that catalyzes the conversion between ribose-5-phosphate (R5P) and ribulose-5-phosphate (Ru5P). It is a member of a larger class of isomerases which catalyze the interconversion of chemical isomers (in this case structural isomers of pentose ).
The pentose phosphate pathway. The pentose phosphate pathway (also called the phosphogluconate pathway and the hexose monophosphate shunt or HMP shunt) is a metabolic pathway parallel to glycolysis. [1] It generates NADPH and pentoses (five-carbon sugars) as well as ribose 5-phosphate, a precursor for the synthesis of nucleotides. [1]
Crystal structure of ribose 5-phosphate isomerase and ribose 5-phosphate complex in E. coli. R5P consists of a five-carbon sugar, ribose, and a phosphate group at the five-position carbon. It can exist in open chain form or in furanose form. The furanose form is most commonly referred to as ribose 5-phosphoric acid. [1]
In enzymology, a ribose isomerase (EC 5.3.1.20) is an enzyme that catalyzes the chemical reaction D-ribose ⇌ {\displaystyle \rightleftharpoons } D-ribulose Hence, this enzyme has one substrate , D-ribose , and one product , D-ribulose .
Triose-phosphate isomerase, Ribose-5-phosphate isomerase: EC 5.3.2: Interconverting Keto- and Enol-Groups: Phenylpyruvate tautomerase, Oxaloacetate tautomerase: EC 5.3.3: Transposing C=C Double Bonds: Steroid Delta-isomerase, L-dopachrome isomerase: EC 5.3.4: Transposing S-S Bonds: Protein disulfide-isomerase: EC 5.3.99: Other Intramolecular ...
One way of doing this is by shuffling glycolytic intermediates such as glucose-6-phosphate into the pentose phosphate pathway to give ribose-5-phosphate and NADPH. Ribose-5-phosphate acts as an intermediate for the production of nucleotides thus providing a connection between glycolysis and nucleotide synthesis in hypoxic tumor cells.
With four diagnosed patients in 27 years, [needs update?] ribose-5-phosphate isomerase deficiency is considered the second rarest. [3] [4] While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to estimate the number of unique rare diseases.