Non-ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis |
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| Authors: | M J Garcia-Muñoz J Belloque B Merinero C Pérez-Cerdá P Sanz M Ugarte |
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| Institution: | Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biologia Molecular, Universidad Autónoma, 28049 Madrid, Spain |
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| Abstract: | We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned. |
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| Keywords: | Non-ketotic hyperglycinaemia Amniotic fluid Prenatal diagnosis Inborn errors of metabolism |
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