Imerslund-Grasbeck syndrome


Also found in: Acronyms.

I·mers·lünd-·Gras·beck syn·drome

(ē'mĕr-slund grōs'bek),
enterocyte cobalamin malabsorption.
[Olga Imerslünd, Ralph Grasbeck]

megaloblastic anaemia type 1

A hereditary form (OMIM:261100) of congenital megaloblastic anaemia due to vitamin B12 deficiency, caused by a defect in the vitamin B12/intrinsic factor receptor.

Molecular pathology
Caused by defects of:
• AMN, which encodes a protein required for the efficient absorption of vitamin B12; and
• CUBN, which encodes cubilin, a protein that acts as a receptor for intrinsic factor-vitamin B12 complexes.

Grasbeck,

Ralph, Finnish physician, 1930–.
Grasbeck-Imerslund syndrome - Synonym(s): Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome - see under Imerslund

Imerslund,

Olga, Norwegian physician.
Grasbeck-Imerslund syndrome - Synonym(s): Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome - familial enterocyte cobalamin malabsorption. Synonym(s): Grasbeck-Imerslund syndrome; malabsorption syndrome