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Article

Molecular Basis for Severe Epimerase Deficiency Galactosemia

1 Jan 2001

Abstract excerpt

Galactosemia is an inherited disorder characterized by an inability to metabolize galactose. Although classical galactosemia results from impairment of the second enzyme of the Leloir pathway, namely galactose-1-phosphate uridylyltransferase, alternate forms of the disorder can occur due to either galactokinase or UDP-galactose 4-epimerase deficiencies. One of the more severe cases of epimerase deficiency...

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PMID: 11279193
DOI: 10.1074/jbc.m101304200

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