has material basis in germline mutation in RPIA ribose-5-P isomerase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/ribose_5_p_isomerase_deficiency https://www.malacards.org/card/ribose_5_phosphate_isomerase_deficiency Orphanet:440706 GARD:0017747 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:0012073 UMLS:C1291609 OMIM:608611 MEDGEN:220946 MESH:C563212 ICD9:277.6 SCTID:124667004 leukodystrophy inborn disorder of pentose phosphate metabolism