Liver and intrahepatic bile ducts-nontumor
Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 25 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.
● Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism due to a severe deficiency of galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate
● Affected infants who consume lactose develop a potentially lethal disease process with multiorgan involvement; prevented by newborn screening (Galactosemia: GeneReviews™ [Internet]. updated 2010 Oct 26, Best Pract Res Clin Gastroenterol 2010;24:607)
● Over 230 GALT mutations identified to date (Mol Genet Metab 2012;106:7)
● Hepatocellular degeneration with focal fatty change, particularly in regenerative nodules; pseudorosettes, cholestasis, fibrosis, cirrhosis
Liver shows extensive fatty change and delicate fibrosis
Electron microscopy description
● Cholestasis, lipid droplets, increased endoplasmic reticulum, abnormal mitochondria
End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > Galactosemia
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