GALACTOSEMIA is a hereditary disorder of carbohydrate metabolism characterized by vomiting, diarrhea, jaundice, poor weight gain, and malnutrition during early infancy (Fig. 1). Mental retardation, cataracts, and cirrhosis of the liver are sometimes seen in this condition. Clinically, the diagnosis is usually established on the basis of an abnormal galactose tolerance curve and the presence of galactose in the urine. Kalckar and his coworkers1 have demonstrated that a deficiency of the enzyme galactose-1-phosphate uridyl transfer-erase is primarily responsible for the disease. Genetic studies indicate that the condition is transmitted by a single autosomal recessive gene,2 This paper will describe the use in one clinic of a multidiscipline approach toward the elucidation of the pathogenetic mechanism for this inborn error of metabolism.
During the past year, we have had the unusual opportunity of making detailed studies on 45 galactosemics from 27 families in North America. On the basis of
Hsia DY, Inouye T, Walker FA. Galactosemia: Clinical, Genetic, and Biochemical Study. JAMA. 1961;178(9):944–946. doi:10.1001/jama.1961.73040480028018b
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