Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.1.1 (hexokinase)
 5,274 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic hemolytic anemia in a 7-year-old Chinese boy was found to be associated with decreased activity of erythrocyte hexokinase (approximately 20% of appropriate control values). Alterations in kinetics, stability, pH optimum, or electrophoretic patterns could not be demonstrated with proband hexokinase, but subtle differences between maternal and paternal hexokinase characteristics suggested that two separate mutant isozymes were involved and that the proband was heterozygous for each. Comparisons with previously reported cases of hexokinase deficiency demonstrate the broad genetic heterogeneity that characterizes this disorder.
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PMID:Hexokinase "New Hyde Park": a low activity erythrocyte isozyme in a Chinese kindred. 723 62