User:Robertshafton/Imerslund-Gräsbeck syndrome

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Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria, is a rare autosomal recessive disorder that is characterized


Dr. Ralph Gräsbeck--after whom the disease is eponymously named in part--cites the statistic (in his 2006 article in the Orphanet Journal of Rare Diseases) of an estimated prevalence of less than 6 affected persons per 1,000,000 of the general population. That said, there are only 300 documented cases according to scientific literature. The disparity between the likely prevalence and the relatively small number of documented cases would therefore be owing to misdiagnosis, rendering an understanding of the syndrome, its clinical corollaries, and those disease processes with which it likely would be confused, to be of considerable importance to physicians and families alike.

Of note, a comparatively large percentage of new cases of Imerslund-Gräsbeck syndrome occur in eastern Mediterranean countries.

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