| |
galactosemia
(gә-lak″to-se´me-ә)
a genetically determined biochemical disorder in which there is a lack of an enzyme necessary for proper metabolism of galactose. Normally the lactose in milk is initially broken down into its glucose and galactose components. The galactose is then changed by enzymatic action into glucose. When this latter step does not take place, galactose accumulates in the tissues and blood. There are two different forms of this disorder, classic galactosemia and galactokinase deficiency. Classic galactosemia is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, and is transmitted as
an autosomal recessive trait. This becomes obvious soon after birth; affected babies have feeding problems, vomiting and diarrhea,
abdominal distention, enlargement of the liver, mental retardation, and elevated blood and urine levels of both galactose
and galactose-1-phosphate.
Copyright 2007. An Elsevier publication. All rights reserved.
Click here for important legal information about Dorland's Medical Dictionary.
|
