megaloblastic anaemia type 1

(redirected from congenital vitamin B12 malabsorption syndrome)

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.
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