Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Leukodystrophy · Inborn disorder of pentose phosphate metabolism
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.
This condition has no sub-types.