Homocysteinemia and Pernicious anemia

Pernicious anemia, a megaloblastic anemia caused by B12 deficiency, is associated with hyperhomocysteinemia. Because B12 is needed for methionine synthase to methylate homocysteine to methionine, a deficiency causes an accumulation of both homocysteine and methylmalonic acid (1). When both are elevated, marking the pernicious anemia, it can lead to progressive demyelination and neurological deterioration.
A folate deficiency may also result in megaloblastic anemia. If homocysteine is elevated but not methylmalonic acid, then the result is probably a folate deficiency. It is important for treatment to be correct. Large doses of folate can correct, or “mask,” symptoms of pernicious anemia, which can result in irreversible neuropathy (2).
References

1. Devlin TM. Textbook of Biochemistry with Clinical Correlations. Philadelphia: Wiley-Liss, 2002

2. Pagana, K.D., Pagana, T.J. Mostby’s Manual of Diagnostic and Laboratory Tests, 3rd ed. Mosby Elsvier, 2006

Published by David Despain, MS, CFS

David is a science and health writer living on Long Island, New York. He's written for a variety of publications including Scientific American, Outside Online, the American Society for Nutrition's (ASN) Nutrition Notes Daily, and Institute of Food Technologists' (IFT) Food Technology magazine and Live! blog. He's also covered new findings reported at scientific meetings including Experimental Biology, AAAS, AOCS, CASW, Sigma Xi, IFT, and others on his personal blog "Evolving Health." David is also an active member of organizations including the National Association of Science Writers (NASW), the American Association for the Advancement of Science (AAAS), the American Society for Nutrition, the Institute of Food Technologists, and the National Audubon Society. David has a master's degree in human nutrition from the University of Bridgeport, and a bachelor's degree in English from University of Illinois at Springfield. He also earned his Certified Food Scientist credential from the Institute of Food Technologists.

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