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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
Related
ribose-5-phosphate isomerase; phosphoriboisomerase (RPIA RPI)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 608611
References
OMIM :accession 608611