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Article

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Journal of human genetics - 1 Feb 2024

Utsuno Yasuhiro, Hamada Keisuke, Hamanaka Kohei, Miyoshi Keita, Tsuchimoto Keiji, Sunada Satoshi, Itai Toshiyuki, Sakamoto Masamune, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Fujita Atsushi, Miyatake Satoko, Misawa Kazuharu, Mizuguchi Takeshi, Kato Yasuhito, Saito Kuniaki, Ogata Kazuhiro, Matsumoto Naomichi

Abstract excerpt

SLC5A6 encodes the sodium-dependent multivitamin transporter, a transmembrane protein that uptakes biotin, pantothenic acid, and lipoic acid. Biallelic SLC5A6 variants cause sodium-dependent multivitamin transporter deficiency (SMVTD) and childhood-onset biotin-responsive peripheral motor neuropathy (COMNB), which both respond well to replacement therapy with the above three nutrients. SMVTD usually presents with...

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Identifiers

PMID: 38012394
DOI: 10.1038/s10038-023-01206-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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