Imerslund 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.

Imerslund syndrome

[Olga Imerslund, Norwegian pediatrician, 1907–1987] A rare, autosomal recessive form of vitamin B12 deficiency, also known as juvenile-type pernicious anemia.

单词	imerslund syndrome
释义	Imerslund 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. Imerslund syndrome [Olga Imerslund, Norwegian pediatrician, 1907–1987] A rare, autosomal recessive form of vitamin B12 deficiency, also known as juvenile-type pernicious anemia.
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