GALACTOSEMIA,* which is frequently familial, is manifested by vomiting, diarrhea, poor weight gain, malnutrition, and the presence of albumin and galactose in the urine while lactose is present in the diet. Jaundice, mental retardation, and cataracts commonly occur. The diagnosis can be made by identification of the sugar in the urine and by a markedly elevated galactose tolerance test with a glucose tolerance test which is within normal limits. Most of these findings are reversible when lactose or galactose is withheld from the diet.
By the use of paper partition chromatography techniques for amino acids, Holzel19 and Bickel20 have recently described an increase of the amino acids in the urine of infants with galactosemia. The present paper will describe amino acid studies performed on two children with the disease and discuss the probable mechanism responsible for this amino-aciduria in galactosemia.
REPORT OF CASES
Case 1.—David P., a white
HSIA DY, HSIA H, GREEN S, KAY M, GELLIS SS. AMINO-ACIDURIA IN GALACTOSEMIA. AMA Am J Dis Child. 1954;88(4):458-465. doi:10.1001/archpedi.1954.02050100460005