Zusammenfassung
Eine Vielzahl dieser seltenen Erkrankungen ist zwar in der Zwischenzeit molekularbiologisch charakterisiert, die Therapiemöglichkeiten sind jedoch nach wie vor eingeschränkt. Die Ursachen hierfür liegen in:
- Der relativen Seltenheit der Erkrankungen,
- der Heterogenität von Geno- und Phänotyp,
- der Unvorhersagbarkeit des klinischen Verlaufs,
- dem undulierenden oder remittierenden Verlauf der Krankheiten,
- präexistierender, irreversibler Gewebeschädigung zum Zeitpunkt der Diagnose und/oder bei Therapiebeginn sowie im
- inadäquaten Follow up und fehlenden Langzeitevaluierungen.
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Literatur
Barbiroll B (1995) Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy. J Neurol 242: 472–477
Campos Y, Huertas R, Lorenzo G et al. (1993) Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle Nerve 16: 150–153
DiMauro S, Rustin P (2009) A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. Biochim Biophys Acta 1792: 1159–1167
Eleff S, Kennaway NG, Buist NR et al. (1984) 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci USA 81: 3529–3533
Haack TB, Danhauser K, Haberberger B et al. (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42: 1131–1134
Kaufmann P, Engelstad K, Wei Y-H et al. (2006) Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 66: 324–330
Klopstock T, Schlamp V, Schmidt F et al. (1999) Creatine monohydrate in mitochondrial diseases: a double-blind, placebo-controlled, cross-over study in 16 patients with progressive external ophthalmoplegia or mitochondrial myopathy. Neurology 52: A543–A544
Klopstock T, Yu-Wai-Mai P, Dimitriadis K, et al. (2011) A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 134: 2677–2686
Naito E, Ito M, Takeda E et al.(1994) Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. Pediatr Res 36: 340–346
Oguro H, Iijima K, Takahashi K et al. (2004) Successful treatment with succinate in a patient with MELAS. Intern Med 43: 427–431
Panetta J, Smith LJ, Boneh A. (2004) Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases. J Inherit Metab Dis 27:487–498
Pineda M, Ormazabal A, Lopez-Gallardo E et al. (2006) Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol 59: 394–398
Sedel F, Challe G et al. (2008) Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. Neurol Neurosurg Psychiatry 79: 846–847
Stacpoole PW, Kerr DS, Barnes C et al. (2006) Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 117: 1519–1531
Tarnopolsky MA, Roy BD, MacDonald JR (1997) A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 20(12): 1502–1509
Wallace DC, Fan W, Procaccio V. (2010) Mitochondrial energetics and therapeutics. Annu Rev Pathol Mech Dis 5: 297–348
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Sperl, W., Freisinger, P. (2014). Mitochondriopathien. In: Reinhardt, D., Nicolai, T., Zimmer, KP. (eds) Therapie der Krankheiten im Kindes- und Jugendalter. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-41814-3_18
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