caa a22 4500 475786025 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000301xx s 000 0 eng 10.1007/s004310050063 doi (NATIONALLICENCE)springer-10.1007/s004310050063 Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls [Elektronische Daten] [A. M. Das, R. Fingerhut, R. J. A. Wanders, K. Ullrich] We report on a boy who suffered from microcephaly, growth retardation, cardiomyopathy and hepatic dysfunction. When he had his first febrile infection at the age of 3 months he showed metabolic decompensation. Laboratory parameters and clinical features were compatible with a β-oxidation defect or a respiratory chain disorder. Measurement of β-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase. The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency). Conclusion This patient had LCHAD deficiency as his primary metabolic disorder, leading to secondary inhibition of respiratory chain enzymes by ‘toxic' metabolites. Springer-Verlag Berlin Heidelberg, 2000 Key words Mitochondria nationallicence Fatty acid oxidation nationallicence LCHAD-deficiency nationallicence Mitochondriopathy nationallicence Das A. M. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut Fingerhut R. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut Wanders R. J. A. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut Ullrich K. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut https://doi.org/10.1007/s004310050063 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050063 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Das A. M. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut NATIONALLICENCE 700 1- Fingerhut R. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut NATIONALLICENCE 700 1- Wanders R. J. A. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut NATIONALLICENCE 700 1- Ullrich K. Department of Paediatrics, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany Fax:+49-40-428035107, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer