[Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)]

In the past, galactosemis was considered to be one disorder; today it is subdivided into various enzymopathies. The enzymopathy occuring most frequently is the disorder with galactose-i-phosphaturidyl transferase. The morphologic equivalent of this desease was described on the basis of two letal cases involving siblings. The parents and the third child in this family (born 6 years later) showed only a 50% reduction in galactose-1-phosphaturidyltransferease activity in the erythrocytes. This was a heterozygous form of glactosemia without manifestations.