%0 Case Reports
%T Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
%A Brooks SS
%A Anderson S
%A Bhise V
%A Botti C
%J J Child Neurol
%V 33
%N 12
%D 10 2018
%M 30088433
%F 2.363
%R 10.1177/0883073818789316
%X 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.