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September 7, 1979

Prenatal Diagnosis of Propionic Acidemia

Author Affiliations

From the Departments of Pediatrics (Drs Sweetman, Weyler and Nyhan) and Reproductive Medicine (Dr Young), School of Medicine, University of California at San Diego, La Jolla, Calif, and the Department of Pediatrics, Riverside General Hospital, Riverside, Calif (Dr Shafai).

JAMA. 1979;242(10):1048-1052. doi:10.1001/jama.1979.03300100026016

Prenatal diagnosis of a fetus with propionic acidemia has been accomplished by the detection of methylcitrate, a unique metabolite, in the amniotic fluid by liquid partition chromatography and gas chromatographymass spectrometry. The diagnosis was confirmed by demonstration of deficient activity of propionyl-CoA carboxylase in cells cultured from the amniotic fluid and in fetal tissues. In two subsequent pregnancies, methylcitrate was not present in amniotic fluid. Enzyme assay indicated that one fetus was heterozygous and the other was normal, and healthy infants were born at term. The analysis of organic acids in amniotic fluid permits very rapid prenatal diagnosis, usually within 48 hours after obtaining the fluid. It may provide a general method in conditions in which an unusual metabolite can be identified.

(JAMA 242:1048-1052, 1979)