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What is galactosemia?

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Galactosemia is a condition in which an individual’s body cannot metabolize the simple sugar galactose found in milk, states MedlinePlus. Galactose-1 phosphate uridyl transferase deficiency, deficiency of galactose kinase and deficiency of galactose-6-phosphate epimerase are the three forms of galactosemia.

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Galactosemia is an inherited disorder that occurs in approximately 1 of 60,000 Caucasians, explains MedlinePlus. Infants with galactosemia show symptoms of lethargy, convulsions, irritability, vomiting, jaundice and poor weight gain. Galactosemia is diagnosed by exams such as a blood culture, a prenatal diagnosis directly measuring the galactose-1-phosphate uridyl transferase and an inspection of enzyme activity in red blood cells. Possible complications of galactosemia include delayed speech development, irregular menstrual periods, tremors, liver cirrhosis, cataracts and intellectual disability.

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