A study of the genetics of galactosaemia

Abstract

Galactose tolerance tests carried out in members of five families in which cases of galactosaemia occurred showed a reduced tolerance for galactose in at feast one parent as well as in other relatives of the patients. In one family the parents were first cousins. Two siblings died of galactosaemia; two surviving children as well as the mother have a grossly abnormal galactose tolerance. This is the first record of galactosaemia in the offspring of a consanguineous marriage. It is concluded that abnormal galactose tolerance without clinical manifestations is inherited as a heterozygous character, while clinical galactosaemia may be transmitted as a homozygous recessive gene.