Increased CSF ribitol concentration

MedGen UID:: 1645903
•Concept ID:: C4703637
•: Finding

Synonym:	Increased level of ribitol in CSF

HPO:	HP:0410071

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIncreased CSF ribitol concentration

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Morphological central nervous system abnormality
      - Abnormal cerebrospinal fluid morphology
        Abnormal CSF metabolite concentration
        Increased CSF ribitol concentration

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

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Increased CSF ribitol concentration

Definition

Term Hierarchy

Conditions with this feature

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