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Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosology

Martina Messina1, Rebecca Ganetzky2, Carlos R Ferreira3

  • 1Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Metabolic Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

Molecular Genetics and Metabolism
|February 1, 2026
PubMed

Insights

This study introduces a standardized classification system for primary mitochondrial diseases (PMD), addressing the lack of a clear definition. It categorizes 452 genes and details clinical features, aiding in consistent diagnosis and research.

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Genetics

Background:

  • Primary mitochondrial diseases (PMD) are a diverse group of disorders resulting from mitochondrial dysfunction.
  • A lack of standardized definition and classification hinders research and clinical practice.
  • Existing classifications lack harmonization with key databases like ICIMD and IEMbase.

Purpose of the Study:

  • To develop a standardized nosology for the systematic classification of primary mitochondrial diseases.
  • To harmonize the classification with existing international standards (ICIMD) and databases (IEMbase).
  • To provide a comprehensive framework for categorizing PMD based on causative genes and affected metabolic pathways.

Main Methods:

  • Compilation of 452 genes causative of primary mitochondrial diseases.
  • Development of an 18-category classification system based on affected molecular functions and metabolic pathways.
  • Analysis of clinical involvement across 22 organs and systems and common laboratory features.

Main Results:

  • A novel 18-category classification system for PMD was established, covering metabolic, genetic, and functional aspects.
  • The classification integrates 452 PMD-associated genes.
  • Neurological, ocular, muscular, gastrointestinal, and cardiovascular systems were identified as the most frequently affected areas.

Conclusions:

  • The proposed nosology provides a standardized and systematic approach to classifying primary mitochondrial diseases.
  • This classification facilitates harmonization with ICIMD and IEMbase, improving consistency in diagnosis and research.
  • Understanding the broad clinical spectrum and frequent organ involvement is crucial for managing PMD.
Keywords:
BiomarkersICIMDIEMbaseInherited metabolic disordersSigns and symptoms

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