Increased level of ribitol in urine

MedGen UID:: 1635343
•Concept ID:: C4703636
•: Finding

HPO:	HP:0410070

Definition

An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIncreased level of ribitol in urine

Abnormality of the genitourinary system
- Abnormality of the urinary system
  - Abnormality of the urinary system physiology
    - Abnormality of urine homeostasis
      - Abnormal urine metabolite level
        Abnormal urine carbohydrate level
        Increased level of ribitol in urine

Conditions with this feature

Deficiency of ribose-5-phosphate isomerase

MedGen UID:: 220946
•Concept ID:: C1291609
•: Disease or Syndrome

Ribose 5-phosphate isomerase deficiency (RPIAD) is an autosomal recessive inborn error of metabolism of the pentose phosphate pathway that presents with leukoencephalopathy and peripheral neuropathy (Huck et al., 2004).

See: Condition Record

Deficiency of ribose-5-phosphate isomerase