caa a22 4500 46904490X CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800011 doi (NATIONALLICENCE)springer-10.1007/BF01800011 Prenatal diagnosis of Non-ketotic hyperglycinaemia [Elektronische Daten] [J. Toone, D. Applegarth, H. Levy] Summary: Non-ketotic hyperglycinaemia (NKH) is a devastating neurological disease for which there is no effective therapy. Consequently, most couples with a pregnancy known to be at risk for NKH request prenatal diagnosis. We have applied the combination of chorionic villus (CVS) assay for glycine cleavage enzyme activity and determination of amniotic fluid glycine concentration to increase the reliability of prenatal diagnosis for this disorder beyond that of each of these methods alone. All 15 of the at-risk pregnancies monitored had CVS glycine cleavage assay and five also had amniotic fluid glycine measurements. Two cases had no detectable cleavage activity in CVS and one gave uninterpretable enzyme results. Amniotic fluid glycine concentration was increased in all three and NKH was confirmed by abortus tissue assays for cleavage activity and amino acids. The remaining 12 case had activity in CVS (two also had normal amniotic fluid glycine levels) and delivered unaffected infants. Four of these 12 cases had cleavage activities below or at the low end of the normal range, perhaps indicating carrier status. We believe that the combination of CVS glycine cleavage assay and amniotic fluid glycine measurement is currently the best approach to the prenatal diagnosis of NKH. SSIEM and Kluwer Academic Publishers, 1992 Toone J. Department of Pathology, Biochemical Diseases Laboratory, BC Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada aut Applegarth D. Department of Pathology, Biochemical Diseases Laboratory, BC Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada aut Levy H. Joseph P. Kennedy, Jr Laboratories of the Neurology Service, Massachusetts General Hospital, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 713-719 0141-8955 15:5<713 1992 15 10545 https://doi.org/10.1007/BF01800011 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800011 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Toone J. Department of Pathology, Biochemical Diseases Laboratory, BC Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Applegarth D. Department of Pathology, Biochemical Diseases Laboratory, BC Children's Hospital, 4480 Oak Street, V6H 3V4, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Levy H. Joseph P. Kennedy, Jr Laboratories of the Neurology Service, Massachusetts General Hospital, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 713-719 0141-8955 15:5<713 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence SWISSBIB 46904490X BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer