Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

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Ribose 5 phosphate isomerase deficiency (RPID) is a rare inborn error of metabolism in the pentose phosphate pathway (PPP)1 with a single case reported to date.2,3 The previously reported patient had leukoencephalopathy with a mild peripheral neuropathy. The diagnosis was established by demonstration of highly elevated levels of polyols by magnetic resonance spectroscopy (MRS) and body fluid analysis.3 Demonstration of reduced enzyme activity in fibroblasts and detection of mutation in the RPIA gene confirmed the diagnosis.1 We report the second case of RPID with a novel homozygous missense mutation.

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