Article
SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption.
Genes - 27 Jun 2023
Hoşnut Ferda Ö, Janecke Andreas R, Şahin Gülseren, Vogel Georg F, Lafcı Naz G, Bichler Paul, Müller Thomas, Huber Lukas A, Valovka Taras, Aksu Aysel Ü
Abstract excerpt
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in SLC5A1 encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital glucose-galactose malabsorption from four unrelated, consanguineous Turkish families. Early recognition and timely management by eliminating glucose and...
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