Stoornissen in de oxidatieve fosforylering: Kliniek, diagnostiek en research

Translated title of the contribution: Disorders of oxidative phosphorylation: Clinical presentation, diagnostics and research

M. C. De Vries, E. Morava, M. Hogeveen, R. J. Rodenburg, L. P.W. Van Den Heuvel, H. J. Ter Laak, M. Lammens, L. G. Nijtmans, P. H. Willems, J. A.M. Smeitink

Research output: Contribution to journalArticle

Abstract

Oxidative phosphorylation (OXPHOS) is one of the most important functions of mitochondria, the power plants of the cell. OXPHOS is the oxidation of substrates and the production of energy as adenosine-triphosphate (ATP). Defects of the OXPHOS-system form a group of diseases that are known as mitochondrial disorders. Most patients develop symptoms in infancy, especially muscle weakness, exercise intolerance and developmental delay. Lactic acid concentration in body fluids does not have to be elevated. Histopathological and especially biochemical investigations of muscle and fibroblasts are an essential part of the diagnostic process. In this report we describe biochemistry, molecular biology, clinical presentation, diagnostics and therapy of OXPHOS-system defects. The actual research topics of the Nijmegen Center for Mitochondrial Disorders are high-lighted, focussing on complex I.

Original languageDutch
Pages (from-to)2-8
Number of pages7
JournalTijdschrift voor Kindergeneeskunde
Volume74
Issue number1
StatePublished - Feb 1 2006

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

De Vries, M. C., Morava, E., Hogeveen, M., Rodenburg, R. J., Van Den Heuvel, L. P. W., Ter Laak, H. J., Lammens, M., Nijtmans, L. G., Willems, P. H., & Smeitink, J. A. M. (2006). Stoornissen in de oxidatieve fosforylering: Kliniek, diagnostiek en research. Tijdschrift voor Kindergeneeskunde, 74(1), 2-8.