Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If rec...

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Autores principales: Kingma, Sandra D.K., Neven, Julie, Bael, An, Meuwissen, Marije E.C., van den Akker, Machiel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500774/
https://www.ncbi.nlm.nih.gov/pubmed/37710296
http://dx.doi.org/10.1186/s13023-023-02889-x
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author Kingma, Sandra D.K.
Neven, Julie
Bael, An
Meuwissen, Marije E.C.
van den Akker, Machiel
author_facet Kingma, Sandra D.K.
Neven, Julie
Bael, An
Meuwissen, Marije E.C.
van den Akker, Machiel
author_sort Kingma, Sandra D.K.
collection PubMed
description Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02889-x.
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spelling pubmed-105007742023-09-15 Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases Kingma, Sandra D.K. Neven, Julie Bael, An Meuwissen, Marije E.C. van den Akker, Machiel Orphanet J Rare Dis Review Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02889-x. BioMed Central 2023-09-14 /pmc/articles/PMC10500774/ /pubmed/37710296 http://dx.doi.org/10.1186/s13023-023-02889-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Kingma, Sandra D.K.
Neven, Julie
Bael, An
Meuwissen, Marije E.C.
van den Akker, Machiel
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title_full Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title_fullStr Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title_full_unstemmed Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title_short Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
title_sort imerslund-gräsbeck syndrome: a comprehensive review of reported cases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500774/
https://www.ncbi.nlm.nih.gov/pubmed/37710296
http://dx.doi.org/10.1186/s13023-023-02889-x
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