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Galactosemia Galactosemia is a rare genetic metabolic disorder. Galactosemia was first discovered in 1908. Von Ruess, in a 1908  

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Galactosemia Galactosemia is a rare genetic metabolic disorder. Galactosemia was first discovered in 1908. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen. This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia. By 1917 galactosemia was recognized has a genetic disorder. Later on, the defective gene that caused galactosemia was found in 1956. It was made...

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