Reactome: A Curated Pathway Database

Defective AMN causes hereditary megaloblastic anemia 1 (R-HSA-3359462) [Homo sapiens]


Defects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were due to defects in AMN (Imerslund 1960). The resultant malabsorption of Cbl (vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.

Name Identifier Synonyms
megaloblastic anemia 13382 [megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS]
Literature References
pubMedId Title Journal Year
13852753 Idiopathic chronic megaloblastic anemia in children Acta Paediatr Suppl 1960