Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Open Access
- 1 January 2012
- journal article
- research article
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 7 (1) , 56
Abstract
Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor Deficiency (IFD). IGS and IFD differ in that IGS usually presents with proteinuria, which is not observed in IFD. The genetic heterogeneity and numerous differential diagnoses make clinical assessment difficult.Keywords
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