Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing.

ABSTRACT: Fifty years have passed since the description of juvenile selective malabsorption of cobalamin (Cbl). Quality of life improvements have dramatically reduced the incidence of parasite-induced or nutritional Cbl deficiency. Consequently, inherited defects have become a leading cause of Cbl deficiency in children, which is not always expressed as anemia. Unfortunately, the gold standard for clinical diagnosis, the Schilling test, has increasingly become unavailable, and replacement tests are only in their infancy. Genetic testing is complicated by genetic heterogeneity and differential diagnosis. This review documents the history, research, and advances in genetics that have elucidated the causes of juvenile Cbl malabsorption. Genetic research has unearthed many cases in the past decade, most

SUBMITTER: Grasbeck R 

PROVIDER: S-EPMC3152595 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature