January 1961

Galactosemia A Family Study

Author Affiliations

Department of Pediatrics, Stritch School of Medicine, Loyola University, 706 S. Wolcott St. (12).; From the Department of Pediatrics of Mercy Hospital and the Stritch School of Medicine of Loyola University, Chicago.

Am J Dis Child. 1961;101(1):75-77. doi:10.1001/archpedi.1961.04020020077012

Galactosemia is an inborn error of carbohydrate metabolism which results from the recessive inheritance of an enzymatic deficit in the metabolism of galactose. The disease is treatable and preventable by the elimination of all sources of galactose from the diet, particularly milk and milk products. The severity of the pathological manifestations of galactosemia are directly related to the amount of galactose fed and the duration of the feedings. For this reason, the early recognition of this disease is necessary to avoid the extensive tissue injury involving the liver, brain, ocular lens, and kidneys and to reduce the mortality.

The purpose of this communication is to report a case of galactosemia along with a family study based on the assay of P-gal-transferase activity in the erythrocytes of the patient, his parents, and his siblings.

Report of a Case  The patient was born on July 6, 1959, and was first admitted to

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