ribose-5-phosphate isomerase deficiency

Epidemiology

• rare

Pathology

• leukoencephalopathy
• peripheral neuropathy

Genetics

• associated with defects in RPIA

Laboratory

• elevated level of the polyols ribitol & D-arabitol in CSF & other body fluids
• deficient activity of RPIA has been demonstrated in fibroblasts

Radiology

• magnetic resonance imaging

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• ribose-5-phosphate isomerase; phosphoriboisomerase (RPIA RPI)

Database

• OMIM: https://mirror.omim.org/entry/608611