Hexokinase deficiency
| Hexokinase deficiency | |
|---|---|
| Specialty | Hematology  |
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]
The cause of hexokinase deficiency is linked to mutations of the HK gene and the encoding of the HK enzyme. The result of the mutations lead to reduction in HK activity.[4]
See also
References
- ^ "DISORDERS OF RED CELLS". Archived from the original on 2007-08-26. Retrieved 2009-02-07.
- ^ 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.
- ^ Online Mendelian Inheritance in Man (OMIM): 235700
- ^ a b "Hexokinase deficiency". www.enerca.org. European Network for Rare and Congenital Anaemias. Retrieved April 6, 2017.