caa a22 4500 469043954 CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800349 doi (NATIONALLICENCE)springer-10.1007/BF01800349 Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose [Elektronische Daten] [R. Wanders, F. Wijburg, J. Ruiter, J. Trijbels, W. Ruitenbeek, R. Sengers, J. Bakkeren, N. Feller] Summary: Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochromec oxidase, or other inhibitors of the mitochondrial respiratory chain. Amniocytes with an established cytochromec oxidase deficiency were also investigated. Control amniocytes treated with azide as well as cytochromec oxidase deficient amniocytes displayed strongly increased lactate-to-pyruvate ratios after incubation with glucose, compared to control cells. Elevated lactate-to-pyruvate ratios were also found in chorionic villus fibroblasts in which complexes I, III or IV were inhibited by rotenone, antimycin or azide, respectively. We conclude that measurement of lactate and pyruvate production from glucose in cultured amniocytes and/or chorionic villus fibroblasts allows adequate prenatal diagnosis of systemic cytochromec oxidase deficiency and presumably of other systemic deficiencies of mitochondrial respiratory chain enzymes. SSIEM and Kluwer Academic Publishers, 1992 Wanders R. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Wijburg F. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Ruiter J. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Trijbels J. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut Ruitenbeek W. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut Sengers R. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut Bakkeren J. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut Feller N. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 84-91 0141-8955 15:1<84 1992 15 10545 https://doi.org/10.1007/BF01800349 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800349 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wanders R. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Wijburg F. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Ruiter J. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Trijbels J. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Ruitenbeek W. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Sengers R. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Bakkeren J. Department of Pediatrics, University Hospital Nijmegen, 6500 HB, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Feller N. Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 84-91 0141-8955 15:1<84 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer