Disorders of cobalamin metabolism overlap with methylmalonic aciduria as the latter is mostly a result of a cobalamin deficiency. They are autosomal recessive metabolic disorder chracterized by elevated levels of methylmalonic acid in both blood and urine and a megaloblastic anemia.
| Anemia | |
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In cobalamin metabolism disorders the anemia is macrocytic. |
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OMIM.ORG article Omim 251000
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