title: Hexokinase deficiency in erythrocytes: a new variant in 5 members of a Finnish family.
abstract: 15 cases of congenital haemolytic anaemia have thus far been attributed to hexokinase (HK) deficiency in erythrocytes. We report some clinical, biochemical and genetic findings from 5 members of a Finnish family with this deficiency. The proband, a 1-year-old girl, was the only patient with anaemia. All subjects had either mild or marked reticulocytosis. Red cell ATP levels were at the lower range of normal in all subjects and 2,3-DPG was abnormally low in one. The activities of red cell enzymes, other than HK, were within or above the normal range, respectively. The Km-values for glucose and fructose were elevated (ATP normal) in the subjects with HK deficiency. We speculate that the family represents heterozygosity of a mutant allele and that there is phenotypic variation associated with the HK mutant. The locus might be subject to mutations which lead to a variety of HK variants and to a spectrum of diseases. This point of view is in accordance with the overwhelming variation of reaction kinetics and metabolic effects of this and other reported cases.
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D000328:Adult; D000483:Alleles; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics*; D001772:Blood Cell Count; D001786:Blood Glucose / Q000032:analysis; D004163:Diphosphoglyceric Acids / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005387:Finland; D005632:Fructose / Q000097:blood; D014644:Genetic Variation; D006579:Heterozygote; D006593:Hexokinase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012156:Reticulocytes
chemical_list: D001786:Blood Glucose; D004163:Diphosphoglyceric Acids; D005632:Fructose; D000255:Adenosine Triphosphate; D006593:Hexokinase