Abstract
SummaryA case of hereditary galactosemia in a newborn infant is reported. Dietary treatment was started on the 9th day of life, which caused a dramatical improvement in the patient's condition. Diagnosis was confirmed by assay of galactose in urine and blood, and finally by demonstration of the enzyme deficiency in the red blood cells of the patient. Both parents had low values for galactose‐1‐phosphate uridyl transferase activity in red blood cells, in agreement with the fact that they are heterozygotes for hereditary galactosemia.A recently described test paper for galactose in urine was used both in the diagnosis of the disease and for the control of the suitability of the patient's diet.In addition to galactose, the urine also contained large anounts of galactitol. On the introduction of galactose‐free diet, galactitol dis‐appeared from the urine more slowly than did galactose.There was an increased concentration of amino acids in the blood and in the urine, as a result of liver damage and also decreased tubular reabsorption. Also the aminoaciduria and the increased blood amino acid concentration disappeared on galactose‐free diet.
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