Novel mutations in 13 probands with galactokinase deficiency

Hum Mutat. 2000;15(5):447-53. doi: 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M.


Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Cloning, Molecular
  • DNA Transposable Elements
  • Exons
  • Female
  • Galactokinase / deficiency*
  • Galactokinase / genetics*
  • Galactosemias / enzymology
  • Galactosemias / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Mutation, Missense
  • Polymerase Chain Reaction
  • Recombinant Proteins / biosynthesis
  • Sequence Deletion


  • DNA Transposable Elements
  • Recombinant Proteins
  • Galactokinase