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Inherited Disorders of Folate and Cobalamin

  • Chapter
Homocysteine Metabolism: From Basic Science to Clinical Medicine

Part of the book series: Developments in Cardiovascular Medicine ((DICM,volume 196))

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Abstract

Confirmed inborn errors of folate transport and metabolism include hereditary folate malabsorption (HFM), glutamate formiminotransferase (GFT) deficiency, and methylenetetrahydrofolate reductase (MTHFR) deficiency. HFM is associated with severe megaloblastic anemia in infancy. The phenotype in GFT is unclear; patients are diagnosed on the basis of excretion of formiminoglutamic acid (FIGLU). The phenotype in MTHFR deficiency varies from infants with severe neurologic disease and death to asymptomatic adults. MTHFR-deficient patients do not have megaloblastic anemia, and diagnosis is based on the finding of homocysteinemia or homocystinuria in the presence of low or normal plasma levels of methionine. Substitution of alanine for valine in a conserved residue of the MTHFR gene is the cause of the thermolabile enzyme that has been associated with risk for cardiovascular disease.

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  1. David S. Rosenblatt
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Editors and Affiliations

  1. The Adelaide Hospital, Trinity College, Dublin, Ireland

    Ian Graham MD

  2. Department of Clinical Biology, University of Bergen, Bergen, Norway

    Helga Refsum MD  & Per Magne Ueland MD  & 

  3. Jean Mayer Usda Human Nutrition Research Center on Aging, Tufts University, Boston, MA, USA

    Irwin H. Rosenberg MD

  4. Tufts University School of Nutrition Science and Policy, Medford, MA, USA

    Jill M. Shuman MS, RD, ELS

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Rosenblatt, D.S. (1997). Inherited Disorders of Folate and Cobalamin. In: Graham, I., Refsum, H., Rosenberg, I.H., Ueland, P.M., Shuman, J.M. (eds) Homocysteine Metabolism: From Basic Science to Clinical Medicine. Developments in Cardiovascular Medicine, vol 196. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5771-5_9

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