GALT Deficiency Galactosemia

MCN Am J Matern Child Nurs. 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388.


Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk.

MeSH terms

  • Galactosemias / diagnosis*
  • Galactosemias / metabolism
  • Galactosemias / physiopathology*
  • Humans
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Nutritional Requirements
  • UTP-Hexose-1-Phosphate Uridylyltransferase / analysis*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / blood
  • UTP-Hexose-1-Phosphate Uridylyltransferase / toxicity


  • UTP-Hexose-1-Phosphate Uridylyltransferase