Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
- PMID: 37710296
- PMCID: PMC10500774
- DOI: 10.1186/s13023-023-02889-x
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
Abstract
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.
Keywords: Cobalamin deficiency; Imerslund-Gräsbeck syndrome; Vitamin B12 deficiency; Vitamin B12 malabsorption.
© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).
Conflict of interest statement
Not applicable.
Similar articles
-
Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.Ital J Pediatr. 2024 Sep 27;50(1):191. doi: 10.1186/s13052-024-01757-z. Ital J Pediatr. 2024. PMID: 39334390 Free PMC article.
-
VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS).Dev Period Med. 2015 Jul-Sep;19(3 Pt 2):351-5. Dev Period Med. 2015. PMID: 26958680
-
Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.Int J Lab Hematol. 2021 Oct;43(5):1009-1015. doi: 10.1111/ijlh.13473. Epub 2021 Jan 25. Int J Lab Hematol. 2021. PMID: 33491342
-
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).Orphanet J Rare Dis. 2006 May 19;1:17. doi: 10.1186/1750-1172-1-17. Orphanet J Rare Dis. 2006. PMID: 16722557 Free PMC article. Review.
-
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.Ital J Pediatr. 2013 Sep 17;39:58. doi: 10.1186/1824-7288-39-58. Ital J Pediatr. 2013. PMID: 24044590 Free PMC article. Review.
Cited by
-
Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes.Int J Mol Sci. 2024 Jul 23;25(15):8021. doi: 10.3390/ijms25158021. Int J Mol Sci. 2024. PMID: 39125597 Free PMC article. Review.
-
Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.Ital J Pediatr. 2024 Sep 27;50(1):191. doi: 10.1186/s13052-024-01757-z. Ital J Pediatr. 2024. PMID: 39334390 Free PMC article.
-
Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?BMC Nephrol. 2024 Jul 11;25(1):221. doi: 10.1186/s12882-024-03660-5. BMC Nephrol. 2024. PMID: 38992620 Free PMC article.
-
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.Appl Clin Genet. 2025 Jun 5;18:73-80. doi: 10.2147/TACG.S519631. eCollection 2025. Appl Clin Genet. 2025. PMID: 40496011 Free PMC article.
-
Unmasking a Rare Cause of Macrocytic Anemia and Proteinuria in a Child.Indian Pediatr. 2025 Aug 18. doi: 10.1007/s13312-025-00172-9. Online ahead of print. Indian Pediatr. 2025. PMID: 40824370 No abstract available.
References
-
- Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr. 1960;49(Suppl):208–9. - PubMed
-
- Grasbeck R, Gordin R, Kantero I, Kuhlback B. Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome. Acta Med Scand. 1960;167:289–96. - PubMed
-
- Stieglitz EJ. Disturbances of renal function in pernicious Anemia. Arch Intern Med. 1924;33(1):58–70.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources