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Elevated circulating ribitol concentration

MedGen UID:
Concept ID:
Synonyms: Increased circulating ribitol concentration; Increased level of ribitol in serum
HPO: HP:0025550


The concentration of ribitol in the blood circulation is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating ribitol concentration

Conditions with this feature

Deficiency of ribose-5-phosphate isomerase
MedGen UID:
Concept ID:
Disease or Syndrome
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.

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