A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion.

The clinical syndrome of galactosaemia is now well known and more than 40 cases have been carefully described in the literature (Bell, Lindsay and Watson, 1950; Bray, Isaac and Watkins, -1952; Donnell and Lann, 1951; Darling and Mortensen, 1954; Goldbloom and Brickman, 1946; Goldstein and Ennis, 1948; Goppert, 1917; Greenman and Rathbun, 1948; Hudson, Ireland, Ockenden and White-Jones, 1954; Johns, 1953; Maris and Valcke, 1953; Mason and Turner, 1935; Mellinkoff, Roth and MacLaggan, 1945; Mortensen and S0ndergaard, 1954; Norman and Fashena, 1943; Reiter and Lasky, 1952; Townsend, Mason and Strong, 1951 Unshelm, 1934). It is generally agreed that the disorder is the result of an inborn error of metabolism and it is thought that the condition is transmitted as a homozygous recessive gene (Holzel and Komrower, 1955). There is no definite knowledge of the aetiology of the condition but writers have suggested that there is an interference with the normal metabolic process: