Novel mutations in 13 probands with galactokinase deficiency

Galactokinase is an essential enzyme in the metabolism of galactose. Patien ts with deficiencies in galactokinase exhibit early onset cataracts. We exa mined the sequence of the human galactokinase gene (GK1) from 13 patients e xhibiting galactokinase deficiency and identified 12 novel mutations. One o f the mutations occurred in six of the 13 probands examined, and the remain ing 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. Hum Mutat 15:447-453, 2000. (C) 2000 Wi ley-Liss, Inc.