megaloblastic anaemia type 1

(redirected from MGA1)

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.
References in periodicals archive ?
Association of rare variants in MGA1 with type 2 diabetes as seen in this study supports the role of insulin resistance in the pathogenesis of the disease, Dr.
Also posed near the Enola Gay are some incredibly striking examples of World War II aircraft types: a P-47 'Thunderbolt', a P-38 'Lightening', a Hawker Hurricane, a FockeWulf 190, a Mitsubishi AGM5 'Zero' fighter and other extremely rare craft like an Arado AR 234 'Blitz' jet bomber and the submarine-launched fighter-bomber, the Aichi MGA1 'Seiran'.