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Isolated sedoheptulokinase deficiency(SHPKD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Sedoheptulokinase deficiency
SNOMED CT: Deficiency of heptulokinase (124309005); Deficiency of sedoheptulokinase (124309005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
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


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:
Concept ID:
An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated sedoheptulokinase deficiency

Recent clinical studies


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

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