Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine
A sensitive and reliable method for trace analysis of methylmalonic acid in amniotic fluid and urine is described using deuterated methylmalonic acid as the internal standard and capillary gas chromatography/mass fragmentography. The application of the method for the prenatal diagnosis of methylmalo...
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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
November 1981
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| In: |
European journal of pediatrics
Year: 1981, Volume: 137, Issue: 3, Pages: 261-266 |
| ISSN: | 1432-1076 |
| DOI: | 10.1007/BF00443254 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF00443254
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| Author Notes: | F.K. Trefz, H. Schmidt, B. Tauscher, E. Depène, R. Baumgartner, G. Hammersen, and W. Kochen |
| Summary: | A sensitive and reliable method for trace analysis of methylmalonic acid in amniotic fluid and urine is described using deuterated methylmalonic acid as the internal standard and capillary gas chromatography/mass fragmentography. The application of the method for the prenatal diagnosis of methylmalonic acidemia is demonstrated in three pregnancies at risk. In two pregnancies the fetuses were affected by methylmalonyl-CoA-mutase deficiency. Correspondingly, the excretion of methylmalonic acid in the maternal urine was elevated as early as at the 12/13th week of gestation, reaching its highest level shortly before abortion at the 19/20th week: 157 and 173 μmol/24h (excretion in normal pregnancies: 39±8 μmol/24h, n=8). In addition, the concentration of methylmalonic acid in amniotic fluid at the 16th week (13.4 and 33.8 μmol/l, normal range 0.31±0.10μmol/l, n=8) strongly suggested that the fetuses were affected. In the third pregnancy no increase of the methylmalonic acid excretion in maternal urine at 11-17 weeks of gestation could be found (42±10 μmol/24h, n=5). The cultured amniotic cells of this fetus showed normal enzyme activity. Nevertheless abortion was initiated without further biochemical investigation because of an elevated a1-fetoprotein value in the amniotic fluid. The fetus was anencephalic. The data suggest that it is possible to make a reliable prenatal diagnosis of methylmalonic acidemia even in those cases where cultured amniotic cells are not available. |
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| Item Description: | Gesehen am 16.12.2025 |
| Physical Description: | Online Resource |
| ISSN: | 1432-1076 |
| DOI: | 10.1007/BF00443254 |