Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency
Journal Title: Journal of Case Reports and Studies - Year 2017, Vol 5, Issue 2
Abstract
Causes of vitamin B12 deficiency in children include decreased intake, abnormal absorption, and inborn errors of B12 transport and metabolism. Rare causes of abnormal cobalamin absorption include Imerslund-Grasbeck syndrome (IGS) and intrinsic factor deficiency (IFD). IGS and IFD are caused by defects in the genes CUBN, AMN, and GIF. We describe a 2 year old male who presented with severe megaloblastic anemia and methylmalonic acidemia. He was found to have a GIF heterozygous mutation c.79+1G>A associated with congenital gastric intrinsic factor deficiency and a novel variant c.960C>A in trans position. Few cases with his particular mutation and megaloblastic anemia have been reported. His unique presentation was characterized by an initial suspicion of myelodysplastic syndrome and a substantial increase in methylmalonic acid levels, which raised concerns about an inborn error of metabolism.
Authors and Affiliations
Robles J
Keywords
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- EP ID EP584116
- DOI 10.15744/2348-9820.5.202
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