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Elevated brain polyol compounds by MRS

MedGen UID:
1841987
•Concept ID:
C5826744
•
Finding
HPO: HP:0034894

Definition

An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated brain polyol compounds by MRS

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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