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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2011

Open Access 01-04-2011 | Editorial

Classic galactosemia: dietary dilemmas

Author: Annet M. Bosch

Published in: Journal of Inherited Metabolic Disease | Issue 2/2011

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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, hypoglycemia, renal tubular dysfunction, cataract, and sepsis. Immediate removal of galactose from the diet results in a full recovery from this life-threatening neonatal crisis (Holton et al. 2001; Bosch 2006). …
Literature
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Metadata
Title
Classic galactosemia: dietary dilemmas
Author
Annet M. Bosch
Publication date
01-04-2011
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-010-9157-8

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