Technology & Data Science for Enhanced Patient Care


Learning Center

Access additional learning opportunities.


Help Us Reach Our Educational Support Goal of $40,000
Educational Travel Grants supported in part by:

Video Viewing Request

You are requesting to view the following presentation:

Presented at 2015_EU

Enzyme Assays for the Diagnosis of Inborn Errors of Galactose Metabolism Using Liquid Chromatography Tandem Mass Spectrometry
Dietrich Matern
Biochemical Genetics Laboratory, Mayo Clinic

Galactosemias are autosomal recessive disorders that results from a deficiency of one of three enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). We implemented LC-MS/MS assays for each enzyme that can be performed from the same specimen. 843 controls and samples from known patients (GALT: n=161; GALK: n=1; GALE: n=6) and asymptomatic mutation carriers (GALT: n=92) were analyzed to determine reference ranges. These tests provide a comprehensive and cost-effective laboratory evaluation to quickly resolve abnormal NBS results for galactosemia or a diagnosis of other at-risk patients.

Please Enter the email address used to register for the most recent conference and you will be emailed a link that will allow you to view the requested video.