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Article

Classic galactosemia: dietary dilemmas

12 Jul 2010

Abstract excerpt

Classic galactosemia (McKusic 230400) is an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT, EC 2..7.712), resulting in accumulation of the metabolites galactitol and galactose-1-phosphate. Patients ingesting galactose from breast milk or infant formula present in the first weeks of life with feeding difficulties, hepatocellular dysfunction,...

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PMID: 20625932
DOI: 10.1007/s10545-010-9157-8

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