D-Galactose is an aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
Galactose is a reducing sugar and can be identified by TLC and quantitated by a specific enzymatic assay. Because of the transient galactosemia and galactosuria that can occur in galactokinase deficiency, blood and urine specimens may need to be collected shortly after a galactose-containing meal or glass of milk to demonstrate abnormally elevated galactose levels.
Increase: Galactokinase-deficient and galactose-1-phosphate uridyl- transferase–deficient galactosemias.