Recurrent "outsider" intronic variation in the

Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have been described so far. Accurate diagnosis is crucial because of the possibility of a supplementation treatment with proven efficacy. Here we describe 4 new patients (3 additional families) originating from the same world region (Algeria, Maghreb). All patients, born form consanguineous parents, were homozygous carriers of the same intronic variation, outside of canonical sites, in the

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Copyright © 2024 Mansour-Hendili, Gitiaux, Harion, Latouche, Heron, Stojkovic, Rama, Smol, Sophie Jourdain, Mention, Nadjar, Schiff, Lemale, Ghoumid, Gottrand, Talbotec, Rötig, Funalot and Desguerre.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.