GALT Deficiency Galactosemia. Issue 1 (January 2018)

• Record Type: Journal Article
• Authors: Anderson, Sharon
• Is Part Of: MCN, the American journal of maternal child nursing. Volume 43:Issue 1(2018)
• Publication Date: 2018-01
• Subjects: Classic -- Galactosemia -- Galactose-1-phosphate uridyltransferase deficiency disease -- Galactose-1-phosphate uridylyltransferase -- GALT deficiency; Obstetric Nursing -- Periodicals; Pediatric Nursing -- Periodicals; Maternal-Child Nursing -- Periodicals; Pediatric nursing -- Periodicals -- Databases; Maternity nursing -- Periodicals -- Databases; Electronic journals; Electronic journals; Maternity nursing; Pediatric nursing; Databases; Periodicals; Electronic journals; Databases; 610.73
• DOI: 10.1097/NMC.0000000000000388
• Languages: English
• ISSNs: 0361-929X

Abstract

Abstract : Abstract: 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. Abstract : Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes. This article focuses on classical, clinical variant and biochemical variant (Duarte) galactosemias. Confirmatory testing, acute and long-term management, and outcomes 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.