Mitochondrial disease criteria: diagnostic applications in children

Neurology. 2006 Nov 28;67(10):1823-6. doi: 10.1212/01.wnl.0000244435.27645.54.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy / standards
  • Child
  • DNA Mutational Analysis / methods
  • DNA Mutational Analysis / standards
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Humans
  • Male
  • Mitochondria / genetics
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation / genetics
  • Predictive Value of Tests


  • DNA, Mitochondrial