RIBOSE 5 PHOSPHATE ISOMERASEDEFICIENCY: A RAREMETABOLICDISORDER

Abstract

An enzymopathy of the pentose phosphate pathway is ribose 5-phosphate isomerase (RPI) deficiency. One rare condition that no medication can prevent is ribose 5-phosphate isomerase. These diseases, which cause the brain's mucus and white matter to build abnormally and impair brain function, are the most underappreciated. And as a result, people pass away. In this condition, the amount of cerebral white matter increases and decreases, elevating the Dribitol level. Residue exchange cannot be entirely blamed for the RPI activity observed in patient cells. The rarest conceivable disease, ribose-5-phosphate isomerase deficiency, is a malfunction in the pentose phosphate pathway (PPP) with only one confirmed case. Because ribose-5-phosphate isomerase is an enzyme involved in the pentose phosphate pathway, mutations in this enzyme can cause ribose 5 phosphate isomerase deficiency, the most uncommon condition. Ribose 5 phosphate utilizes the purine synthesis pathway to initiate the production of phosphoribosyl pyrophosphate (PRPP). Ribose and ribose phosphate are the products as well as the intermediates of the pentose phosphate pathway.A fairly uncommon, hereditary pentose phosphate metabolism condition called ribose-5-P isomerase deficiency is characterized by a progressive leukoencephalopathy and significantly elevated levels of ribitol and D-arabitol in the brain and bodily fluids. Unstable ribose 5 phosphate enzyme synthesis is the cause of ribose 5 phosphate isomerase. Any disease that affects the human body, such as optic atrophy, cerebellar ataxia, seizures, or epilepsy, is the cause of them. Treatment for diseases resulting from ribose 5 phosphate isomerase problem is utilized to diagnose them.