/Imerslund-Grasbeck syndrome type 1

Imerslund-Grasbeck syndrome type 1

Rare Disease

MONDO:0100156

Also Known As

Imerslund-Grasbeck syndrome 1Imerslund-Grasbeck syndrome type 1MGA-1MGA1Mga1enterocyte cobalamin malabsorptionenterocyte intrinsic factor receptor, defect ofmegaloblastic Anaemia type 1megaloblastic Anemia type 1megaloblastic anemia, 1megaloblastic anemia, Finnish typepernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria

Definition

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.