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Article

GALT Deficiency Galactosemia

5 Dec 2017

Abstract excerpt

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...

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PMID: 29215423
DOI: 10.1097/nmc.0000000000000388

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