Ribose 5-Phosphate Isomerase Deficiency (RPIAD)

Ribose 5-Phosphate Isomerase Deficiency, also known as deficiency of ribose-5-phosphate isomerase, is related to peripheral nervous system disease and neuropathy, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Ribose 5-Phosphate Isomerase Deficiency is RPIA (Ribose 5-Phosphate Isomerase A), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. Affiliated tissues include brain and prefrontal cortex, and related phenotypes are global developmental delay and incoordination