Method for Screening and Distinguishing Between Cobalamin and Folic Acid Deficiencies

Project Number:
CU 280/281-B

Accurate and early diagnosis of cobalamin and folic acid deficiencies is critical as these deficiencies can lead to life-threatening hematological and/or neuro-psychiatric abnormalities. However, measurement of cobalamin or folic acid in serum or plasma has been confounded with problems of cross-reactivity with analogs or metabolites of these molecules.

This patented invention provides methods and reagents for measuring cystathionine and 2-methylcitric acid levels in body fluids, predicting cobalamin and/or folic acid deficiencies in a human subject, and distinguishing between the deficiencies. According to this invention, elevated cystathionine level corresponds with either deficiency whereas elevated 2-methylcitric acid levels are indicative of cobalamin deficiency, but not folic acid deficiency. The body fluids suitable for testing include serum, plasma, urine and cerebrospinal fluid. Analysis is performed using gas chromatography or mass spectrometry and can be combined with assays for homocysteine and/or methylmalonic acid.

For more information please contact:

Aris D. Despo
Executive Vice President, Business Development
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Tel: 704.519.5443