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Increased urinary sedoheptulose

MedGen UID:
937399
•Concept ID:
C4313432
•
Finding
HPO: HP:0025157

Definition

An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased urinary sedoheptulose

Conditions with this feature

Isolated sedoheptulokinase deficiency
MedGen UID:
713680
•Concept ID:
C1291373
•
Disease or Syndrome
SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).
See: Condition Record
Isolated sedoheptulokinase deficiency

Recent clinical studies

Diagnosis

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA
Biochim Biophys Acta 2010 Nov;1802(11):1028-35. Epub 2010 Jun 18 doi: 10.1016/j.bbadis.2010.06.007. PMID: 20600873Free PMC Article
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C
J Inherit Metab Dis 2007 Oct;30(5):735-42. Epub 2007 Jun 27 doi: 10.1007/s10545-007-0590-2. PMID: 17603756

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