The Genetic Mechanism of Galactosaemia

Abstract

A family is presented in which the grandfather was proven to have galactosemia by galactose tolerance tests and by the determination of the enzyme galactose- 1-phosphate uridyl transfer-ase level in his blood. His six children were shown by similar enzyme studies to be heterozygous carriers of the condition. One of these married another unrelated heterozygous carrier; they had 2 affected children in their family of four. A complete review of the literature is given. Genetic analysis of the data collected strongly suggests that galactosemia is transmitted as a Mendelian autosomal recessive gene. The results of laboratory studies in the detection of the heterozygous carrier in galactosemia are given. These confirm, in this family, this mode transmission,.