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Deficiency of ribose-5-phosphate isomerase
Ribose 5-phosphate isomerase deficiency (RPIAD) is an autosomal recessive inborn error of metabolism of the pentose phosphate pathway that presents with leukoencephalopathy and peripheral neuropathy (Huck et al., 2004). [from OMIM]
Elevated circulating ribitol concentration
The concentration of ribitol in the blood circulation is above the upper limit of normal. [from HPO]
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