[1] [13] When B12 levels are borderline or clinical suspicion remains high despite normal B12, additional tests include: Holotranscobalamin (active B12) , which may be more sensitive in early or borderline deficiency Methylmalonic acid (MMA) and homocysteine levels, which become elevated in functional B12 deficiency (note that MMA is also elevated in renal impairment, and homocysteine rises in folate and B6 deficiency) Full blood count to identify macrocytic anaemia (elevated mean cell volume) Blood film examination may show hypersegmented neutrophils and megaloblastic changes Serum folate should be checked concurrently, as deficiencies often coexist Investigating the underlying cause is essential for appropriate management
doi: 10.1007/s00401-010-0749-z 58 SolomouGDulanka SilvaAHWongAPohlUTzerakisN
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