Summary
Because methylmalonic acid (MMA) accumulates in the body fluids of patients suffering from inherited metabolic disorders involving its pathway, the quantitation of this metabolite is not only fundamental to diagnosis but is also important in the follow-up of affected patients under treatment.
We describe the method set up and used in our laboratory for the measurement of MMA in body fluids and propose its application to plasma as the reference method for the biochemical diagnosis and follow-up of methylmalonic acidaemias.
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References
C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, eds, The metabolic basis of inherited disease. McGraw-Hill, New York, 1989 pp. 821, 2065.
B. Fowler, Biochim. Biophys. Acta,721, 201 (1982).
U. Caruso, V. Raverdino, C. Romano, Biomed. Mass Spectgrometry16, 285 (1988).
U. Caruso, S. Lupino, A. R. Fantasia, C. Romano, Biochimica Clinica14, Suppl. 2, 51 (1990).
C. Jakobs, J. Inher. Metab. Dis.,12, Suppl. 2, 257 (1989).
C. Romano, M. Loi, R. Cerone, S. Gatti, S. Lupino, U. Caruso, The Fourth International Congress of Inborn Errors of Metabolism (Proc). Sendai 1987.
C. Bellini, R. Cerone, P. Santini, W. Bonacci, U. Caruso, G. Serra, C. Romano, Am. J. Hum. Genetics45, A3 (1989).
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Caruso, U., Lupino, S., Schiaffino, M.C. et al. Capillary GC-MS — Stable isotope dilution analysis of methylmalonic acid in plasma: A candidate reference method for the diagnosis and the follow-up of methylmalonic acidaemias. Chromatographia 36, 212–214 (1993). https://doi.org/10.1007/BF02263866
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DOI: https://doi.org/10.1007/BF02263866