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Article

A founder noncoding GALT variant interfering with splicing causes galactosemia.

Journal of inherited metabolic disease - 1 Nov 2020

Latchman Kumarie, Brown Jeanette, Sineni Claire J, Ragin-Dames Lorrien, Guo Shengru, Huang Jingyu, Thorson Willa, Hacker Stephanie, Barbouth Deborah, Tekin Mustafa, Bademci Guney

Abstract excerpt

Galactosemia is a rare, treatable hereditary disorder of carbohydrate metabolism. We investigated the etiology of decreased GALT enzyme activity in a cohort of newborns referred by the Florida Newborn Screening Program with no detectable GALT variants in diagnostic molecular tests. Six affected individuals from four families with Guatemalan heritage were included. GALT enzyme activity ranged from 20% to 34% of...

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PMID: 32748411
DOI: 10.1002/jimd.12293

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