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Article

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.

European journal of medical genetics - 1 Aug 2023

Montomoli Martino, Vetro Annalisa, Tubili Flavia, Donati Maria Alice, Daniotti Marta, Pochiero Francesca, Rivieri Francesca, Girlando Salvatore, Guerrini Renzo

Abstract excerpt

The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development. Systemic deficiency of these elements, either occurring from nutritional causes or genetic defects, is associated with neurological disorders, growth delay, skin and hair changes,...

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PMID: 37391029
DOI: 10.1016/j.ejmg.2023.104808

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