Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Abstract

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

• Imerslund-Gräsbeck syndrome
• Vitamin B12 deficiency
• Cobalamin deficiency
• Vitamin B12 malabsorption