Prenatal diagnosis of propionic acidaemia

Van Hove JL, Chace DH, Kahler SG, Millington DS (1993) Acylcarnitines in amniotic fluid application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis 16 361-367... 

Sweetman, L., Weyler, W., Shafai, T., Young, P.E. and Nyhan, W.L. (1976), Prenatal diagnosis of propionic acidaemia by organic acid analysis. Clin. Res., 24, 295A (Abstract). 

Propionyl-CoA carboxylase is expressed in both fibroblasts and cultured amniotic cells, and this has enabled prenatal diagnosis of the condition to be undertaken. Gompertz et al (1973, 1975) reported the detection of a foetus affected with propionic acidaemia in a mother in whom amniocentesis was performed at about 26 weeks gestation. Because of the time of amniocentesis, pregnancy proceeded and the affected infant was born at 38 weeks. Despite therapy with biotin and a low-protein (MSUD) diet the child died at 1 year of age. 

Gompertz, D., Goodey, P.A., Thom, H., Russell, G., Johnston, A.W., Mellor, D.H., MacLean, M.W., Ferguson-Smith, M.E. and Ferguson-Smith, M.A. (1975), Prenatal diagnosis and family studies in a case of propionic acidaemia. Clin. Genet, y 8,244. 

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