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Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios

✍ Scribed by A. Jordá; M. Portolés; F. Bonilla-Musoles; L. Sweetman; W. L. Nyhan

Publisher
Springer
Year
1987
Tongue
English
Weight
124 KB
Volume
10
Category
Article
ISSN
0141-8955

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Prenatal diagnosis for non-ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in two families. In 26 families, enzymatic analysis of the glycine cleavage multi-enzyme system (GCS) yielded an unambiguous diagnosis; inconcl

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We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by two centres: Vancouver, Canada and Lyon, France. One