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@article{187132,
        author = {Adamya Jai prakash Shukla and Sahil Vikram Pawar and Bhavesh Mahendra Jain and Sania Shafeel Shaikh},
        title = {Ribose-5-Phosphate Isomerase Deficiency (RPID): A Rare Metabolic Disorder},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {12},
        number = {6},
        pages = {3815-3818},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=187132},
        abstract = {A very uncommon inborn metabolic error that affects the reversible (non-oxidative) phase of the pentose phosphate pathway (PPP) is ribose-5-phosphate isomerase (RPI; EC 5.3.1.6) deficiency. It denotes a new class of disorders involving aberrant pentose and polyol metabolism and is the second known enzyme defect in this section of the PPP, after transaldolase deficiency. Peripheral neuropathy and leukoencephalopathy were the initial symptoms of RPI deficiency in a patient. Born in 1984 to healthy, unrelated parents, he displayed psychomotor retardation from a young age, epilepsy at age 4, and a progressive neurological decline at age 7, marked by mild sensorimotor neuropathy, cerebellar ataxia, spasticity, and optic atrophy. There was no evidence of liver or other organ dysfunction. Widespread abnormalities in the cerebral white matter were discovered by magnetic resonance imaging (MRI). High levels of the polyols ribitol and D-arabitol were detected in the brain using proton magnetic resonance spectroscopy (MRS), and these levels were subsequently verified in bodily fluids. In white matter, quantitative analysis revealed ribitol at 2.9 mmol/L and D-arabitol at 8.9 mmol/L. RPI gene sequencing revealed one frameshift and one missense mutation, while enzyme analyses in fibroblasts verified reduced RPI activity. Pentose derivatives that are reduced to polyols accumulate in tissues and fluids as a result of the biochemical defect that hinders the conversion of ribose-5-phosphate to ribulose-5-phosphate. This finding revealed a hitherto unknown mechanism of metabolic leukoencephalopathy associated with pentose phosphate pathway defects.},
        keywords = {Pentose phosphate pathway, RPIA gene mutation, ribose-5-phosphate isomerase deficiency (RPID), Leukoencephalopathy accumulation of polyols (ribitol, D-arabitol), inheritance that is autosomal recessive, progressive decline in neurological function, delay in development, epilepsy, retardation of the psychomotor atrophy of the eyes, Sensorimotor neuropathy, spasticity, synthesis of nucleotides, Leukoencephalopathy with progressive toxicity of polyols, impairment of RNA synthesis, a rare metabolic disease.},
        month = {November},
        }