Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Cobalamin deficiency
Imerslund-Gräsbeck syndrome
Vitamin B12 deficiency
Vitamin B12 malabsorption
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
14 09 2023
14 09 2023
Historique:
received:
17
01
2023
accepted:
25
08
2023
medline:
18
9
2023
pubmed:
15
9
2023
entrez:
14
9
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37710296
doi: 10.1186/s13023-023-02889-x
pii: 10.1186/s13023-023-02889-x
pmc: PMC10500774
doi:
Substances chimiques
Vitamin B 12
P6YC3EG204
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
291Informations de copyright
© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).
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