{Reference Type}: Case Reports
{Title}: Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
{Author}: Brooks SS;Anderson S;Bhise V;Botti C;
{Journal}: J Child Neurol
{Volume}: 33
{Issue}: 12
{Year}: 10 2018
{Factor}: 2.363
{DOI}: 10.1177/0883073818789316
{Abstract}: Ribose-5-phosphate isomerase deficiency, a disorder of the pentose phosphate shunt, was described in 1999. There are 2 previously reported cases of ribose-5-phosphate isomerase deficiency. Here, we describe the clinical course, diagnostic odyssey, and molecular findings in the third case of ribose-5-phosphate isomerase deficiency to further delineate the syndrome. Whole-exome sequencing demonstrated 2 mutations in the ribose-5-phosphate isomerase gene, RPIA, in a child with neonatal onset leukoencephalopathy and psychomotor delays. Urine polyols were elevated confirming deficiency of ribose-5-phosphate isomerase (RPI, EC. 5.3.1.6) and pathogenicity of the variants. Measurement of urine polyols should be considered in cases of early-onset white-matter disease.