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.

Also known as: ribose 5-phosphate isomerase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Ribose-5-P isomerase deficiency itself.