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Decreased CSF erythritol concentration

MedGen UID:
1641831
•Concept ID:
C4703622
•
Finding
Synonym: Decreased level of erythritol in CSF
 
HPO: HP:0410056

Definition

Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased CSF erythritol 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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