Galactosemia

Alternative names:

galactose-1-phosphate uridyl transferase deficiency

Definition:

The inability of the body to use (metabolize) the simple sugar galactose (in the form of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems.

Causes, incidence, and risk factors:

Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 1 out of 60,000 births. There are two forms of the disease, galactose-1 phosphate uridyl transferase deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the galactose-1-phosphate deficiency is the most severe.

People with galactosemia are unable to metabolise the simple sugar galactose. Galactose makes up half of the sugar called lactose that is found in milk. Lactose is called a disaccharide, di meaning 2, since lactose is made up of two sugars, galactose and glucose, bound together. If an infant with galactosemia is given milk, galactose builds up in the infants system causing damage to the liver, brain, kidneys and eyes. Individuals with galactosemis cannot tolerate any form of milk (human or otherwise) or any other galactose-containing food. Exposure to milk products will result in liver damage, mental retardation, cataract formation, and kidney failure.

Updated Date: 02/09/00

Updated By:J. Gordon Lambert, MD, Associate Medical Director, Utah Health Informatics and adam.com editorial