children s health issues
Galactosemia
Introduction
Galactosemia (a high blood level of galactose) is a Overview of Carbohydrate Metabolism Disorders that is caused by a lack of one of the enzymes necessary for metabolizing galactose, a sugar that is part of a larger sugar called lactose (milk sugar). A metabolite that is toxic to the liver and kidneys builds up. The metabolite also damages the lens of the eye, causing cataracts. Galactosemia occurs when parents pass a defective Galactosemia is caused by a lack of one of the enzymes needed to metabolize the sugar in milk. Symptoms include vomiting, jaundice, diarrhea, and abnormal growth. The diagnosis is based on blood and urine tests. Even with adequate treatment, affected children still develop mental and physical problems. Treatment involves completely eliminating milk and milk products from the diet. Galactose is a sugar that is present in milk as part of lactose and in some fruits and vegetables. Deficiency of a certain enzyme can alter the breaking down (metabolizing) of galactose, which can lead to high levels of galactose in the blood (galactosemia). There are different forms of galactosemia, but the most common and the most severe form is referred to as classic galactosemia. There are different types of Inheritance of Single-Gene Disorders . In galactosemia, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also 