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Increased level of D-threitol in urine

MedGen UID:
1646905
•Concept ID:
C4703625
•
Finding
HPO: HP:0410059

Definition

An increase in the level of D-threitol in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased level of D-threitol 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

Etiology

The Effect of Exogenous Free N(ε)-(Carboxymethyl)Lysine on Diabetic-Model Goto-Kakizaki Rats: Metabolomics Analysis in Serum and Urine.
Quan W, Jiao Y, Xue C, Li Y, Liu G, He Z, Qin F, Zeng M, Chen J
J Agric Food Chem 2021 Jan 20;69(2):783-793. Epub 2021 Jan 5 doi: 10.1021/acs.jafc.0c06445. PMID: 33401897
The urinary (1) H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings.
Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, Francavilla R
Autism Res 2017 Jun;10(6):1058-1066. Epub 2017 Mar 11 doi: 10.1002/aur.1748. PMID: 28296209

Diagnosis

The urinary (1) H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings.
Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, Francavilla R
Autism Res 2017 Jun;10(6):1058-1066. Epub 2017 Mar 11 doi: 10.1002/aur.1748. PMID: 28296209

Therapy

The Effect of Exogenous Free N(ε)-(Carboxymethyl)Lysine on Diabetic-Model Goto-Kakizaki Rats: Metabolomics Analysis in Serum and Urine.
Quan W, Jiao Y, Xue C, Li Y, Liu G, He Z, Qin F, Zeng M, Chen J
J Agric Food Chem 2021 Jan 20;69(2):783-793. Epub 2021 Jan 5 doi: 10.1021/acs.jafc.0c06445. PMID: 33401897

Clinical prediction guides

The urinary (1) H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings.
Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, Francavilla R
Autism Res 2017 Jun;10(6):1058-1066. Epub 2017 Mar 11 doi: 10.1002/aur.1748. PMID: 28296209

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