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Defective AMN causes MGA1
Stable Identifier
R-HSA-3359462
Type
Pathway
Species
Homo sapiens
Synonyms
Defective AMN causes hereditary megaloblastic anemia 1
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective AMN causes MGA1 (Homo sapiens)
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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
IMERSLUND, O
Acta Paediatr Suppl
1960
Participants
Events
Defective AMN does not transport GIF:Cbl
(Homo sapiens)
Participates
as an event of
Defects in cobalamin (B12) metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
megaloblastic anemia
DOID: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
Authored
Jassal, B (2013-05-13)
Reviewed
Watkins, D (2013-08-14)
Created
Jassal, B (2013-05-13)
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