Hexokinase deficiency

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Hexokinase deficiency
Classification and external resources
Specialty hematology
ICD-10 D55.2
ICD-9-CM 282.3
OMIM 235700

Hexokinase deficiency is an anemia-causing condition associated with inadequate hexokinase.[1][2] Specifically, the HK1 isozyme is involved.[3]

An acronym for Hexokinase deficiency is HK deficiency, and it is a genetic disease. The person must be homozygous for the trait, as being heterozygous would just make the person a carrier of that mutated gene. [4]

See also[edit]

References[edit]

  1. ^ "DISORDERS OF RED CELLS". Archived from the original on 2007-08-26. Retrieved 2009-02-07. 
  2. ^ Paglia DE, Shende A, Lanzkowsky P, Valentine WN (1981). "Hexokinase "New Hyde Park": a low activity erythrocyte isozyme in a Chinese kindred". Am. J. Hematol. 10 (2): 107–17. doi:10.1002/ajh.2830100202. PMID 7234862. 
  3. ^ Online Mendelian Inheritance in Man (OMIM) 235700
  4. ^ "Hexokinase deficiency". www.enerca.org. European Network for Rare and Congenital Anaemias. Retrieved April 6, 2017.