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Sedoheptulokinase deficiency(SHPKD)

MedGen UID:
713680
Concept ID:
C1291373
Disease or Syndrome
Synonym: SHPKD
SNOMED CT: Deficiency of heptulokinase (124309005); Deficiency of sedoheptulokinase (124309005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SHPK (17p13.2)
 
Monarch Initiative: MONDO:0014969
OMIM®: 617213
Orphanet: ORPHA440713

Definition

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). [from OMIM]

Clinical features

From HPO
Increased urinary sedoheptulose
MedGen UID:
937399
Concept ID:
C4313432
Finding
An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.
Increased urinary sedoheptulose
MedGen UID:
937399
Concept ID:
C4313432
Finding
An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.

Recent clinical studies

Etiology

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS
J Inherit Metab Dis 2015 Sep;38(5):889-94. Epub 2015 Feb 3 doi: 10.1007/s10545-014-9809-1. PMID: 25647543Free PMC Article
Kardon T, Stroobant V, Veiga-da-Cunha M, Schaftingen EV
FEBS Lett 2008 Oct 15;582(23-24):3330-4. Epub 2008 Sep 5 doi: 10.1016/j.febslet.2008.08.024. PMID: 18775706
Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA
Hum Mutat 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. PMID: 18186520

Prognosis

Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA
Hum Mutat 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. PMID: 18186520

Clinical prediction guides

Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA
Hum Mutat 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. PMID: 18186520

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