Galactosemia: A study of twenty‐seven kindreds in North America*

Abstract

Summary The present paper reports on the enzyme studies performed on 421 individuals in twenty‐seven kindreds which include twenty‐nine sibships containing galactosemic individuals. By fitting normal curves to a group of known heterozygotes (parents) and normal controls, it was possible to establish exclusion limits for each group. The analysis indicates that most heterozygotes can be classified correctly on the basis of enzyme studies. The identification of heterozygotes confirms the previous suggestion that galactosemia is due to an autosomal recessive gene. In the galactosemic sibships, there was an excess of males over that usually seen in the white population at birth. This effect appeared to be present among both affected and unaffected children and was independent of birth order and parental age.