Liver and intrahepatic bile ducts-nontumor

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Liver and intrahepatic bile ducts-nontumor

Metabolic diseases

Galactosemia

Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 25 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.

General
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● 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)

Diagrams
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Galactose metabolism

Micro description
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● Hepatocellular degeneration with focal fatty change, particularly in regenerative nodules; pseudorosettes, cholestasis, fibrosis, cirrhosis

Micro images
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Liver shows extensive fatty change and delicate fibrosis

Electron microscopy description
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● Cholestasis, lipid droplets, increased endoplasmic reticulum, abnormal mitochondria

End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > Galactosemia

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