Increased CSF xylitol concentration

MedGen UID:: 1634037
•Concept ID:: C4703641
•: Finding

Synonyms:	Increased level of xylitol in cerebrospinal fluid; Increased level of xylitol in CSF

HPO:	HP:0410075

Definition

The concentration of xylitol 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 xylitol 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 xylitol 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

MedGen

National Center for Biotechnology Information

Send to:

Increased CSF xylitol concentration

Definition

Term Hierarchy

Conditions with this feature

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity