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Article

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.

American journal of medical genetics. Part A - 1 Jun 2025

Walimbe Ameya S, Waskow Emily, Mackay Laura, Miller Marcus, Gijavanekar Charul, Difalco Charles R, Elsea Sarah H, Scaglia Fernando

Abstract excerpt

The sodium-dependent multivitamin transporter (SMVT) is a ubiquitously expressed sodium-solute symporter that transports pantothenic acid, biotin, and α-lipoic acid across the intestinal epithelia and blood-brain barrier. Severe biallelic loss-of-function variants in SLC5A6 (MIM #604024) lead to SMVT deficiency (SMVTD, MIM #618973), which classically presents with developmental delay, brain atrophy, epilepsy,...

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Identifiers

PMID: 39898461
DOI: 10.1002/ajmg.a.64014

Genes

SLC5A6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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