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Decreased level of erythritol in urine

MedGen UID:
1632680
•Concept ID:
C4703621
•
Finding
HPO: HP:0410055

Definition

A decrease in the level of erythritol in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased level of erythritol 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

Recent clinical studies

Therapy

Effects of oral administration of erythritol on patients with diabetes.
Ishikawa M, Miyashita M, Kawashima Y, Nakamura T, Saitou N, Modderman J
Regul Toxicol Pharmacol 1996 Oct;24(2 Pt 2):S303-8. doi: 10.1006/rtph.1996.0112. PMID: 8933647

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