Reactome: A Curated Pathway Database

Defective AMN causes hereditary megaloblastic anemia 1

Stable Identifier
R-HSA-3359462
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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.

Literature References
PubMed ID Title Journal Year
13852753 Idiopathic chronic megaloblastic anemia in children Acta Paediatr Suppl 1960
Participants
Participant Of
Disease
Diseases
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]