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EUROPE 2015

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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.

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