Mitochondrial disease criteria

Diagnostic applications in children

Eva Morava-Kozicz, L. Van Den Heuvel, F. Hol, M. C. De Vries, M. Hogeveen, R. J. Rodenburg, J. A.M. Smeitink

Research output: Contribution to journalArticle

138 Citations (Scopus)

Abstract

BACKGROUND: Based on a previous prospective clinical and biochemical study, a consensus mitochondrial disease scoring system was established to facilitate the diagnosis in patients with a suspected mitochondrial disorder. OBJECTIVE: To evaluate the specificity of the diagnostic system, we applied the mitochondrial disease score in 61 children with a multisystem disease and a suspected oxidative phosphorylation disorder who underwent a muscle biopsy and were consecutively diagnosed with a genetic mutation. METHODS: We evaluated data of 44 children diagnosed with a disorder in oxidative phosphorylation, carrying a mutation in the mitochondrial or nuclear DNA. We compared them with 17 children who, based on the clinical and metabolic features, also had a muscle biopsy but were finally diagnosed with a nonmitochondrial multisystem disorder by further genetic analysis. RESULTS: All children with a genetically established diagnosis of a primary oxidative phosphorylation disorder had a mitochondrial disease score above 6 (probable mitochondrial disorder), and 73% of the children had a score above 8 (definite mitochondrial disorder) at evaluation of the muscle biopsy. In the nonmitochondrial multisystem disorder group, the score was significantly lower, and no patients reached a score comparable with a definite respiratory chain disorder. CONCLUSIONS: The mitochondrial disease criteria system has a high specificity to distinguish between mitochondrial and other multisystem disorders. The method could also be applied in children with a suspected mitochondrial disorder, prior to performing a muscle biopsy.

Original languageEnglish (US)
Pages (from-to)1823-1826
Number of pages4
JournalNeurology
Volume67
Issue number10
DOIs
StatePublished - Nov 1 2006
Externally publishedYes

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Mitochondrial Diseases
Oxidative Phosphorylation
Biopsy
Muscles
Mutation
Inborn Genetic Diseases
Electron Transport
DNA

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Morava-Kozicz, E., Van Den Heuvel, L., Hol, F., De Vries, M. C., Hogeveen, M., Rodenburg, R. J., & Smeitink, J. A. M. (2006). Mitochondrial disease criteria: Diagnostic applications in children. Neurology, 67(10), 1823-1826. https://doi.org/10.1212/01.wnl.0000244435.27645.54

Mitochondrial disease criteria : Diagnostic applications in children. / Morava-Kozicz, Eva; Van Den Heuvel, L.; Hol, F.; De Vries, M. C.; Hogeveen, M.; Rodenburg, R. J.; Smeitink, J. A.M.

In: Neurology, Vol. 67, No. 10, 01.11.2006, p. 1823-1826.

Research output: Contribution to journalArticle

Morava-Kozicz, E, Van Den Heuvel, L, Hol, F, De Vries, MC, Hogeveen, M, Rodenburg, RJ & Smeitink, JAM 2006, 'Mitochondrial disease criteria: Diagnostic applications in children', Neurology, vol. 67, no. 10, pp. 1823-1826. https://doi.org/10.1212/01.wnl.0000244435.27645.54
Morava-Kozicz E, Van Den Heuvel L, Hol F, De Vries MC, Hogeveen M, Rodenburg RJ et al. Mitochondrial disease criteria: Diagnostic applications in children. Neurology. 2006 Nov 1;67(10):1823-1826. https://doi.org/10.1212/01.wnl.0000244435.27645.54
Morava-Kozicz, Eva ; Van Den Heuvel, L. ; Hol, F. ; De Vries, M. C. ; Hogeveen, M. ; Rodenburg, R. J. ; Smeitink, J. A.M. / Mitochondrial disease criteria : Diagnostic applications in children. In: Neurology. 2006 ; Vol. 67, No. 10. pp. 1823-1826.
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