Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Mar 22;14(4):346-349.
doi: 10.1136/flgastro-2022-102344. eCollection 2023.

Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth

Kushila Rupasinghe  1 , Nkem Onyeador  2
Affiliations
Case Reports

Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth

Kushila Rupasinghe et al. Frontline Gastroenterol. .

Abstract

We describe the case of a previously fit child with recurrent vomiting, faltering growth, persistent diarrhoea and rashes who was diagnosed with a sodium-dependent multivitamin transporter (SMVT) defect. Whole exome sequencing revealed he was homozygous for a SLC5A6 missense variant. The SLC5A6 gene produces SMVTs, which are expressed in various tissues including the intestine, brain, liver, lung, kidney, cornea, retina and heart. It plays a major role in the uptake of biotin, pantothenate and lipoate in the digestive system and transporting B-group vitamins across the blood-brain barrier. This case was only the fourth described in literature. Management was with vitamin replacement therapy: biotin, dexpanthenol and α-lipoic acid. With treatment there was significant, sustained clinical improvement with resolution of recurrent vomiting, rashes and graduation to full enteral feeds. This case highlights how defects in multivitamin transporters can lead to multisystemic disease and subsequent targeted treatment leading to significant clinical improvement.

Keywords: GENETICS; NUTRITION IN PAEDIATRICS; PAEDIATRIC DIARRHOEA; PAEDIATRIC GASTROENTEROLOGY.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Severe perianal rash and perioral rash.
See this image and copyright information in PMC

References

    1. Ghosal A, Lambrecht N, Subramanya SB, et al. . Conditional knockout of the SLC5A6 gene in mouse intestine impairs biotin absorption. Am J Physiol Gastrointest Liver Physiol 2013;304:G64–71. 10.1152/ajpgi.00379.2012 - DOI - PMC - PubMed
    1. Subramanian VS, Constantinescu AR, Benke PJ, et al. . Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet 2017;136:253–61. 10.1007/s00439-016-1751-x - DOI - PMC - PubMed
    1. Schwantje M, de Sain-van der Velden M, Jans J, et al. . Genetic defect of the sodium-dependent multivitamin transporter: a treatable disease, mimicking biotinidase deficiency. JIMD Rep 2019;48:11–4. 10.1002/jmd2.12040 - DOI - PMC - PubMed
    1. Byrne AB, Arts P, Polyak SW, et al. . Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med 2019;4:28. 10.1038/s41525-019-0103-x - DOI - PMC - PubMed
    1. Hauth I, Waterham HR, Wanders RJA, et al. . A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification. Cold Spring Harb Mol Case Stud 2022;8:a006185. 10.1101/mcs.a006185 - DOI - PMC - PubMed

Publication types

LinkOut - more resources