RPIA rabbit pAb

catalytic activity:D-ribose 5-phosphate = D-ribulose 5-phosphate.,disease:Defects in RPIA are the cause of ribose 5-phosphate isomerase deficiency [MIM:608611]. A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts.,pathway:Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.,similarity:Belongs to the ribose 5-phosphate isomerase family.,