|
 GalactosemiaCauses and Risks:Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 2 out of 100,000 births. There are two forms of the disease, galactose-1 phosphate uridyl transferase deficiency and galactose kinase deficiency. Of the two, the galactose-1-phosphate deficiency is the most severe. People with galactosemia cannot tolerate any form of milk (human or otherwise), because the milk sugar lactose (a disaccharide) is made up of equal parts of glucose and galactose. Exposure to milk produces toxic levels of galactose in the infant. This leads to liver damage, cataract formation, and brain damage. Typically, a newborn with galactosemia, upon being fed milk, will develop jaundice , vomiting , lethargy , irritability, and convulsions . Continued feeding of milk products to the infant leads to cirrhosis , cataract formation, and mental retardation . Prevention: A personal knowledge of family history is helpful. If there is a family history of galactosemia, genetic counseling may help prospective parents make decisions about pregnancy . Symptoms:
Tests include:
|