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Clinical presentation of mitochondrial disorders in childhood
Author(s) -
Munnich A.,
Rötig A.,
Chretien D.,
Cormier V.,
Bourgeron T.,
Bonnefont J. P.,
Saudubray J. M.,
Rustin P.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799112
Subject(s) - respiratory chain , mitochondrial respiratory chain , oxidative phosphorylation , mitochondrial dna , mitochondrial disease , mitochondrion , adenosine triphosphate , respiratory system , mitochondrial myopathy , biology , medicine , bioinformatics , genetics , gene , biochemistry
Summary Respiratory‐chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only in the neuromuscular system. Indeed, a number of non‐neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory‐chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, owing to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA, mtDNA). In recent years, it has become increasingly clear that genetic defects of oxidative phosphorylation account for a large variety of clinical symptoms in childhood. Among 100 patients with respiratory‐chain deficiencies identified in our centre, 56% presented with a non‐neuromuscular symptom and 44% were referred for a neuromuscular problem. It appears that the diagnosis of a respiratory‐chain deficiency is difficult initially when only one symptom is present. In contrast, this diagnosis is easier to consider when two seemingly unrelated symptoms are observed