Summary
Amniotic fluid samples from pregnancies complicated by foetal methylmalonic aciduria and from metabolically normal pregnancies were obtained at 16–18 weeks of gestation and analysed for total, free and acylcarnitine and individual carnitine esters. The amniotic fluid concentrations of total acylcarnitine and propionylcarnitine were higher in pregnancies with methylmalonic aciduria than in normal pregnancies. The predominant carnitine ester was propionylcarnitine in the methylmalonic aciduria group and acetylcarnitine in the normal group. These findings suggest that in methylmalonic aciduria, abnormalities of carnitine metabolism already occur early in gestation. The amount of propionylcarnitine in amniotic fluid may be useful as an additional indicator of foetal methylmalonic aciduria
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bieber, L. L., Emaus, R., Valkner, K. and Farrell, S. Possible functions of short chain and medium chain acyltransferases.Fed. Proc. 41 (1982) 2858–2862
Bieber, L. L. and Kerner, J. Short-chain acylcarnitines: identification and quantification. In Chytil, F. and McCormick, D. B. (eds.),Methods in Enzymology, vol. 123, Academic Press, New York, 1986, pp. 264–276
Chalmers, R. A., Roe, C. R., Tracey, B. M., Stacy, T. E., Hoppel, C. L. and Millington, D. S. Secondar carnitine insufficiency in disorders of organic acid metabolism: modulation of acyl CoA/CoA ratios byL-carnitinein vivo. Biochem. Soc. Trans. 11 (1983) 724–730
DiDonato, S., Rimoldi, M., Garavaglia, B. and Uziel, G. Propionyl-carnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.Clin. Chim. Acta 139 (1984) 13–21
Engle, A. G. and Rebouche, C. J. Carnitine metabolism and inborn errors.J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 38–43
Hahn, P., Scala, J. P., Seecombe, D. W., Frohlich, J., Penn-Walker, D., Novak, M., Hynie, I. and Towell, M. E. Carnitine content of blood and amniotic fluid.Pediatr. Res. 11 (1977) 878–880
McGarry, J. D. and Foster, D. W. An improved and simplified radioisotopic assay for determination of free and esterified carnitine.J. Lipid Res. 17 (1976) 277–281
Novak, M., Wieser, P. B., Buch, M. and Hahn, P. Acetylcarnitine and free carnitine in body fluids before and after birth.Pediatr. Res. 13 (1979) 10–15
Penn, D., Schmidt, H., Otten, A. and Schmidt-Sommerfeld, E. Carnitin in derBehandlung der Methylmalonacidurie (MMA).Monatsschr. Kinderheilkd. 134 (1986) 758–761
Rosenberg, L. E. Disorders of propionate and methylmalonate metabolism. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 474–497
Schmidt-Sommerfeld, E., Penn, D. and Wolf, H. The influence of maternal fat metabolism on fetal carnitine levels.Early Hum. Dev. 5 (1981) 233–242
Schmidt-Sommerfeld, E., Penn, D., Sodha, R. J., Progler, M., Novak, M. and Schneider, H. Transfer and metabolism of carnitine and carnitine esters in thein vitro perfused human placenta.Pediatr. Res. 19 (1985) 700–706
Sweetman, L. Prenatal diagnosis of the organic acidurias.J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 18–22
Sweetman, L., Naylor, G., Ladsner, T., Holm, J., Nyhan, W. L., Hornbeck, C., Griffiths, J., Morch, L., Brandange, S., Gruenke, L. and Craig, J. C. Prenatal diagnosis of propionic and methylmalonic aciduria by stable isotope dilution analysis of methylcitric and methylmalonic acids in amniotic fluid. In Schmidt, H. L., Forstel, H. and Heinzinger, K., (eds.),Stable Isotopes, Elsevier, Amsterdam, 1982, pp. 287–293
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Penn, D., Schmidt-Sommerfeld, E., Jakobs, C. et al. Amniotic fluid propionylcarnitine in methylmalonic aciduria. J Inherit Metab Dis 10, 376–382 (1987). https://doi.org/10.1007/BF01799980
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01799980