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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 ).
Ribose 5-phosphate isomerase deficiency, the rarest disease in the world, [13] [14] is also linked to an imbalance of R5P. Although the molecular pathology of the disease is poorly understood, hypotheses included decreased RNA synthesis. Another disease linked to R5P is gout. [15]
It generates NADPH and pentoses (five-carbon sugars) as well as ribose 5-phosphate, a precursor for the synthesis of nucleotides. [1] While the pentose phosphate pathway does involve oxidation of glucose, its primary role is anabolic rather than catabolic. The pathway is especially important in red blood cells (erythrocytes).
Phosphohexose Isomerase Deficiency (PHI) is also known as phosphoglucose isomerase deficiency or Glucose-6-phosphate isomerase deficiency, and is a hereditary enzyme deficiency. PHI is the second most frequent erthoenzyopathy in glycolysis besides pyruvate kinase deficiency , and is associated with non-spherocytic haemolytic anaemia of variable ...
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 .
Ribose-5-Phosphate Isomerase Deficiency; Surgery: LASIK (corneal neuropathy — 20 to 55% of people). [35] Genetic diseases: Friedreich's ataxia, Fabry disease, [36] Charcot-Marie-Tooth disease, [37] hereditary neuropathy with liability to pressure palsy; Hyperglycemia-induced formation of advanced glycation end products (AGEs) [14] [38] [39]
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.