Disorders

Epimerase Deficiency Galactosemia

Synonym(s): Galactose Epimerase Deficiency, Galactosemia III, GALE Deficiency, UDP-Galactose 4'-Epimerase Deficiency, UDP-Galactose-4-Epimerase Deficiency

GeneReview OMIM

Gene	Locus	Protein
GALE	1p36-p35	UDP galactose 4'-epimerase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Enzyme assay
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA	• Enzyme assay

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.