Epimerase

Also known as: uridine diphosphate 4-epimerase.

What is an epimerase test?

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).

What happens during the procedure?

A routine blood draw is required in order to perform the epimerase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection and damage to surrounding organs (nerve injury), and tissues are potential risks of the test.


Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 8/17/2018 1:57:05 PM

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.