ribose-5-P isomerase deficiency
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
MONDO:0019046
leukodystrophy
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MONDO:0019231
inborn disorder of pentose phosphate metabolism
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SPAC144.12