Galactose epimerase deficiency

Definition:

Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed "peripheral type" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed "generalized type".

References:

[1]. B B Quimby, et al. Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. Am J Hum Genet. 1997 Sep;61(3):590-8. [Content Brief]

[2]. Thomas J McCorvie, et al. Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia. Biochim Biophys Acta. 2012 Oct;1822(10):1516-26. [Content Brief]

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