What is an epimerase test?

Also known as: uridine diphosphate 4-epimerase.

Lactose is a sugar (made up of glucose and galactose) which is broken down by an enzyme called lactase. Galactose requires additional enzymes to break it down-one of which is uridine diphosphate 4- epimerase. When this enzyme is deficit/absent (a rare genetic disorder from a recessive form of inheritance), it causes a disease called galactosemia.

The Epimerase test is a blood test conducted in infants to look for a uridine diphosphate galactose 4-epimerase deficiency (GALE).

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM