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Prenatal diagnosis of non-ketotic hyperglycinemia |
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| Authors: | D A Applegarth H L Levy V E Shih B McGillivray J T Wong J R Toone L T Kirby |
| Institution: | 1. Biochemical Diseases Laboratory, B.C. Children's Hospital, 4480 Oak St., Vancouver, B.C. V6H 3V4, Canada
Department of Medical Genetics, University of British Columbia, Vancouver, B.C., Canada;2. Laboratories of the Neurology Service, Massachusetts General Hospital, and the Department of Neurology, Harvard Medical School, Boston, MA, U.S.A.;3. Department of Medical Genetics, University of British Columbia, Vancouver, B.C., Canada;4. Biochemical Diseases Laboratory, B.C. Children's Hospital, 4480 Oak St., Vancouver, B.C. V6H 3V4, Canada |
| Abstract: | We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/ serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non-ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability. |
| Keywords: | Glyeine Non-ketotic Amniotic fluid Amino acids |