Article Text

Download PDFPDF
Case report
Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth
  1. Kushila Rupasinghe1,
  2. Nkem Onyeador2
  1. 1 Department of Paediatric Gastroenterology, Chelsea and Westminster Healthcare NHS Trust, London, UK
  2. 2 Department of Paediatric Gastroenterology, St George's Healthcare NHS Trust, London, UK
  1. Correspondence to Dr Kushila Rupasinghe, Chelsea and Westminster Healthcare NHS Trust, London, SW10 9NH, UK; k.rupasinghe{at}


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.


Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Contributors KR was involved in the patient care during the inpatient stay for this child and wrote the majority of the manuscript. NO was the consultant overseeing the patient care and edited the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.