The genetic mechanism of galactosaemia

Abstract

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