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Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency

Journal: Journal of Case Reports and Studies (JCRS) (Vol.5, No. 2)

Publication Date:

Authors : ; ;

Page : 1-3

Keywords : Methylmalonic Acidemia; Megaloblastic Anemia; Intrinsic Factor Deficiency;

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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.

Last modified: 2017-06-23 18:12:45