{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:27:00Z","timestamp":1791563220982,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T00:00:00Z","timestamp":1707177600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Biallelic pathogenic variants in\n                      <jats:italic>SLC5A6<\/jats:italic>\n                      resulting in sodium\u2010dependent multivitamin transporter (SMVT) defect have recently been described as a vitamin\u2010responsive 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\u2010intestinal dysfunction and failure to thrive, osteopenia, immunodeficiency, metabolic acidosis, hypoglycemia, and recently severe cardiac symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe a case report of a 5\u2010month\u2010old 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\u2010dependent multivitamin transporter (SMVT), SMVT defect\/disorder\/deficiency,\n                      <jats:italic>SLC5A6<\/jats:italic>\n                      gene\/mutation).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We highlight the life\u2010threatening 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\u2009mg a day and pantothenic acid 100\u2009mg a day). Metabolic assessment showed a persistent increase of urinary 3\u2010hydroxyisovaleric acid (3\u2010HIA) as previously reported in this disease in literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      SMVT deficiency is a vitamin\u2010responsive inborn error of metabolism that can lead to a wide range of symptoms. Increased and isolated excretion of urinary 3\u2010hydroxyisovaleric 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\n                      <jats:italic>SLC5A6<\/jats:italic>\n                      sequencing as this condition may be life\u2010threatening.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2388","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T02:14:22Z","timestamp":1707272062000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A new case of sodium\u2010dependent multivitamin transporter defect occurring as a life\u2010threatening condition responsive to early vitamin supplementation and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5331-3050","authenticated-orcid":false,"given":"F.\u2010X.","family":"Van\u00a0Vyve","sequence":"first","affiliation":[{"name":"Pediatric Intensive Care Unit, Department of Pediatrics Jolimont Hospital  La Louvi\u00e8re Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Mercier","sequence":"additional","affiliation":[{"name":"Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies (Charleroi) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Papadopoulos","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Department of Pediatrics Jolimont Hospital  La Louvi\u00e8re Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Heijmans","sequence":"additional","affiliation":[{"name":"Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies (Charleroi) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Dessy","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Department of Pediatrics Jolimont Hospital  La Louvi\u00e8re Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Monestier","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Institute of Pathology and Genetics  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Dewulf","sequence":"additional","affiliation":[{"name":"Biochemical Genetics and Newborn Screening Laboratory, Department of Clinical Chemistry Cliniques Universitaires Saint\u2010Luc  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4074-849X","authenticated-orcid":false,"given":"D.","family":"Roland","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Center for Inherited Metabolic Disorders Institute of Pathology and Genetics  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010019\u20100103\u2010x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00379.2012"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a006185"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201001033\u20102"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.208.Supp.168.03"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3945\/jn.111.146126"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104808"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M407056200"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.vh.2014.12.003"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/flgastro\u20102022\u2010102344"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00319.2017"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110326"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u201094\u2010007\u20102199\u20109_1"},{"key":"e_1_2_11_15_1","volume-title":"StatPearls","author":"Saleem F.","year":"2023"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12040"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010016\u20101751\u2010x"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107560"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.13092"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.08.002"}],"updated-by":[{"DOI":"10.1002\/mgg3.70105","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000}}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2388","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T02:56:52Z","timestamp":1717124212000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/mgg3.2388"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2388","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"2023-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2388"}}