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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).

Recent clinical studies

Etiology

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
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

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

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

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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