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Review
. 2024 Feb;12(2):e2388.
doi: 10.1002/mgg3.2388.

A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review

F-X Van Vyve  1 , N Mercier  2 , J Papadopoulos  1 , C Heijmans  2 , H Dessy  1 , O Monestier  3 , J P Dewulf  4 , D Roland  5
Affiliations
Review

A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review

F-X Van Vyve et al. Mol Genet Genomic Med. 2024 Feb.

Erratum in

Abstract

Background: Biallelic pathogenic variants in SLC5A6 resulting in sodium-dependent multivitamin transporter (SMVT) defect have recently been described as a vitamin-responsive inborn error of metabolism mimicking biotinidase deficiency. To our knowledge, only 16 patients have been reported so far with various clinical phenotypes such as neuropathy and other neurologic impairments, gastro-intestinal dysfunction and failure to thrive, osteopenia, immunodeficiency, metabolic acidosis, hypoglycemia, and recently severe cardiac symptoms.

Methods: We describe a case report of a 5-month-old girl presenting two recurrent episodes of metabolic decompensation and massive cardiac failure in the course of an infectious disease. We compare clinical, biological, and genetic findings of this patient to previous literature collected from Pubmed database (keywords: Sodium-dependent multivitamin transporter (SMVT), SMVT defect/disorder/deficiency, SLC5A6 gene/mutation).

Results: We highlight the life-threatening presentation of this disease, the stagnation of psychomotor development, the severe and persistent hypogammaglobulinemia, and additionally, the successful clinical response on early vitamin supplementation (biotin 15 mg a day and pantothenic acid 100 mg a day). Metabolic assessment showed a persistent increase of urinary 3-hydroxyisovaleric acid (3-HIA) as previously reported in this disease in literature.

Conclusion: SMVT deficiency is a vitamin-responsive inborn error of metabolism that can lead to a wide range of symptoms. Increased and isolated excretion of urinary 3-hydroxyisovaleric acid may suggest, in the absence of markedly reduced biotinidase activity, a SMVT deficiency. Prompt supplementation with high doses of biotin and pantothenic acid should be initiated while awaiting results of SLC5A6 sequencing as this condition may be life-threatening.

Keywords: SLC5A6; SMVT; biotin; cardiac failure; immunodeficiency; pantothenic acid deficiency.

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Conflict of interest statement

No conflict of interest.

References

    1. Byrne, A. B. , Arts, P. , Polyak, S. W. , Feng, J. , Schreiber, A. W. , Kassahn, K. S. , Hahn, C. N. , Mordaunt, D. A. , Fletcher, J. M. , Lipsett, J. , Bratkovic, D. , Booker, G. W. , Smith, N. J. , & Scott, H. S. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genomic Medicine, 4, 28. 10.1038/s41525-019-0103-x - DOI - PMC - PubMed
    1. Ghosal, A. , Lambrecht, N. , Subramanya, S. B. , Kapadia, R. , & Said, H. M. (2013). Conditional knockout of the SLC5A6 gene in mouse intestine impairs biotin absorption. American Journal of Physiology. Gastrointestinal and Liver Physiology, 304(1), G64–G71. 10.1152/ajpgi.00379.2012 - DOI - PMC - PubMed
    1. Hauth, I. , Waterham, H. R. , Wanders, R. J. A. , van der Crabben, S. N. , & van Karnebeek, C. D. M. (2022). A mild case of sodium‐dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification. Cold Spring Harbor Molecular Case Studies, 8(2), a006185. 10.1101/mcs.a006185 - DOI - PMC - PubMed
    1. Holling, T. , Nampoothiri, S. , Tarhan, B. , Schneeberger, P. E. , Vinayan, K. P. , Yesodharan, D. , Roy, A. G. , Radhakrishnan, P. , Alawi, M. , Rhodes, L. , Girisha, K. M. , Kang, P. B. , & Kutsche, K. (2022). Novel biallelic variants expand the SLC5A6‐related phenotypic spectrum. European Journal of Human Genetics, 30(4), 439–449. 10.1038/s41431-021-01033-2 - DOI - PMC - PubMed
    1. Hsieh, C.‐H. , Chen, P.‐C. , & Shieh, C.‐C. (2022). Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment. Journal of Immunology, 208(1_Supplement), 168.03. 10.4049/jimmunol.208.Supp.168.03 - DOI - PubMed

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