The treatment of congenital galactosaemia.

Congenital galactosaemia is now a well recognized inborn error of metabolism and over 45 cases have been *recorded (Andersen, 1957; Bennett, 1958). The underlying defect is the absence of the enzyme phospho-galactose uridyl transferase (Isselbacher, 1957), which catalyses the first stage of the conversion of galactose-l-phosphate to glucose; this results in an inability to metabolize galactose, and causes the intolerance to milk which characterizes the condition. The clinical features of galactosaemia are of varying severity: for example, previously unsuspected cases have been recently discovered in mental defectives (Bergren, Donnell and Kalckar, 1958), while relatives of established cases may have an abnormal galactose tolerance test as the only manifestation of the disease (Holzel and Komrower, 1955). There is a marked contrast between these subjects and the acute form of the disease presenting with jaundice, hepatomegaly, galactosuria and ammo-aciduria in the newborn, which, despite improved methods of diagnosis, still carries an appreciable mortality (Cox and Pugh, 1954; Clay and Potter, 1955; Holzel, Komrower and Schwarz 1957; Isselbacher, 197). Mason and Turner (1935) first described the successful use of a milk free diet in the treatment of an 11-month-old baby with galactosaemia; at the age of 24 years (though mentally retarded) he was able to tolerate small amounts of galactose (National Institutes of Health, 1957). In view of the recent increase of interest in this condition and the likelihood of its more frequent diagnosis, the purpose of this report is to evaluate the various diets which may be used, and to re-emphasize the necessity of the complete exclusion of lactose from the diet.