title: Clinical aspects of mitochondrial disorders.
abstract: Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expected in mitochondrial disorders. Here, we present eight puzzling observations which give support to the view that a disorder of oxidative phosphorylation can give rise to any symptom in any organ or tissue with any apparent mode of inheritance. Consequently, we suggest giving consideration to the diagnosis of a mitochondrial disorder when dealing with an unexplained association of symptoms, with an early onset and a rapidly progressive course involving seemingly unrelated organs. Determination of lactate/pyruvate and ketone body molar ratios in plasma can help to select patients at risk for this condition.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: D
authors.initials: D
authors.lastname: Chretien
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: C
authors.initials: C
authors.lastname: Nuttin
authors.forename: V
authors.initials: V
authors.lastname: Cormier
authors.forename: A
authors.initials: A
authors.lastname: Vassault
authors.forename: P
authors.initials: P
authors.lastname: Parvy
authors.forename: J
authors.initials: J
authors.lastname: Bardet
mesh_terms: D002675:Child, Preschool; D003128:Coma / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006331:Heart Diseases / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007657:Ketone Bodies / Q000097:blood; D007674:Kidney Diseases / Q000235:genetics; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008107:Liver Diseases / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008928:Mitochondria / Q000201:enzymology*; D010084:Oxidation-Reduction; D010085:Oxidative Phosphorylation; D010198:Pancytopenia / Q000235:genetics; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid
chemical_list: D004272:DNA, Mitochondrial; D007657:Ketone Bodies; D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid