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The Hunger Project Bolen Report
Ohm Society
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Galactosemia Print E-mail

Dr. Kennedy Galactosemia is a genetic metabolic disease in which there is a defect in the body's ability to use the sugar galactose, the major sugar contained in milk. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose-1-phosphate uridyl transferase) which causes an accumulation of galactose 1-phosphate damaging the liver, eye, brain and kidney. Galactosemia is one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. The symptoms of galactosemia include jaundice (yellowish discoloration of the skin and the whites of the eyes), vomiting, poor feeding, poor weight gain, lethargy, irritability, convulsions, and opacities in the lenses of the eyes. The signs detected include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), aminoaciduria (amino acids are present in the urine), cirrhosis, ascites (fluid collected within the abdomen), cataracts and mental retardation. The incidence of classical galactosemia at birth is one in 60,000 which means there are approximately 500 cases in the U.S. today.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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