Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Sandra D K Kingma; Julie Neven; An Bael; Marije E C Meuwissen; Machiel van den Akker

doi:10.1186/s13023-023-02889-x

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Orphanet J Rare Dis. 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x.

Authors

Sandra D K Kingma^{1

2

3}, Julie Neven², An Bael^{3

4}, Marije E C Meuwissen⁵, Machiel van den Akker^{6

7

8

9}

Affiliations

¹ Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium.
² Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.
³ Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium.
⁴ Department of Pediatric Nephrology, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium.
⁵ Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.
⁶ Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium. [email protected].
⁷ Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium. [email protected].
⁸ Department of Pediatrics, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium. [email protected].
⁹ Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium. [email protected].

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.

Publication types

Review

MeSH terms

Anemia, Megaloblastic*
Humans
Malabsorption Syndromes
Proteinuria
Vitamin B 12 / therapeutic use
Vitamin B 12 Deficiency*

Substances

Vitamin B 12

Supplementary concepts

Imerslund-Grasbeck syndrome