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Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV |
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| Authors: | M. E. Rubio-Gozalbo W. Ruitenbeek H. A. C. M. Bentlage H. Schägger R. C. A. Sengers J. M. F. Trijbels H. J. ter Laak E. C. M. Mariman M. M. Bakker J. de Jager J. A. M. Smeitink |
| Affiliation: | Department of Paediatrics, Section of Metabolic Diseases, University Children's Hospital Nijmegen, PO Box 9101, NL-6500 HB Nijmegen, The Netherlands, Tel.: 31-24-3614430, Fax: 31-24-3616428, NL Zentrum der Biologischen Chemie, Universit?tsklinikum Frankfurt, Frankfurt am Main, Germany, DE Department of Neurology, University Children's Hospital Nijmegen, The Netherlands, NL Department of Human Genetics, University Children's Hospital Nijmegen, The Netherlands, NL Department of Paediatrics, Elkerliek Ziekenhuis, Helmond, The Netherlands, NL |
| Abstract: | An infant with severe deficiency of complex III combined with less severe deficiencies of complexes I, II and IV of the mitochondrial respiratory chain in skeletal muscle tissue presented with intra-uterine growth retardation, generalized hypotonia and delayed motor development. In the following 3.5 years muscle tone and motor development gradually normalized whereas the lactic acidosis and enzyme activities did not improve. Conclusion This report documents a favourable clinical course in a child with combined respiratory chain deficiency despite persistent biochemical abnor-malities. Received: 4 February 1997 / Accepted in revised form: 20 June 1997 |
| Keywords: | Mitochondria Combined deficiency |
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