enterocyte cobalamin malabsorption

en·ter·o·cyte co·bal·a·min mal·ab·sorp·tion

an inherited disorder of impaired transintestinal transport of cobalamin; symptoms are similar to a vitamin B12 deficiency.

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.