Infantile mitochondrial encephalopathy

Graziella Uziel, Daniele Ghezzi, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review


Individually rare, when taken as a whole, genetic inborn errors of metabolism (IEM) account for a significant proportion of early onset encephalopathy. Prompt diagnosis is crucial to assess appropriate investigation and can sometimes warrant successful therapy. Recent improvements in technology and expansion of knowledge on the biochemical and molecular basis of these disorders allow astute child neurologists and paediatricians to improve the early diagnosis of these genetically determined defects. However, because of rarity and heterogeneity of these disorders, IEM encephalopathies are still a formidable challenge for most physicians. The most frequent cause of childhood IEM encephalopathy is mitochondrial disease, whose biochemical 'signature' is faulty energy supply due to defects of the last component of the oxidative pathways residing within mitochondria, i.e. the mitochondrial respiratory chain.

Original languageEnglish
Pages (from-to)205-215
Number of pages11
JournalSeminars in Fetal and Neonatal Medicine
Issue number4
Publication statusPublished - Aug 2011


  • Encephalomyopathies
  • Mitochondrial disorders
  • Mitochondrial DNA
  • Respiratory chain deficiencies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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