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Deficiency of hexokinase

MedGen UID:
584936
•Concept ID:
C0398563
•
Disease or Syndrome
Synonyms: Deficiency of hexokinase type IV; Hexokinase Deficiency; Hexokinase deficiency; HK - Hexokinase deficiency
SNOMED CT: Hexokinase deficiency (124297004); HK - Hexokinase deficiency (124297004); Deficiency of hexokinase type IV (124297004); Deficiency of hexokinase (124297004)

Definition

A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of hexokinase

Professional guidelines

PubMed

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.
Bragato C, Carra S, Blasevich F, Salerno F, Brix A, Bassi A, Beltrame M, Cotelli F, Maggi L, Mantegazza R, Mora M
Biochim Biophys Acta Mol Basis Dis 2020 May 1;1866(5):165662. Epub 2020 Jan 7 doi: 10.1016/j.bbadis.2020.165662. PMID: 31917327
Erythrocyte metabolism during renal anemia treatment with recombinant human erythropoietin.
Debska-Slizień A, Owczarzak A, Lysiak-Szydłowska W, Rutkowski B
Int J Artif Organs 2004 Nov;27(11):935-42. doi: 10.1177/039139880402701105. PMID: 15636050
Clinical utility of fractionating erythrocytes into "Percoll" density gradients.
Mosca A, Paleari R, Modenese A, Rossini S, Parma R, Rocco C, Russo V, Caramenti G, Paderi ML, Galanello R
Adv Exp Med Biol 1991;307:227-38. doi: 10.1007/978-1-4684-5985-2_21. PMID: 1666816

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