Clinical presentations and laboratory investigations in respiratory chain deficiency

A Munnich; A Rötig; D Chretien; J M Saudubray; V Cormier; P Rustin

doi:10.1007/BF02002711

Clinical presentations and laboratory investigations in respiratory chain deficiency

Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711.

Authors

A Munnich¹, A Rötig, D Chretien, J M Saudubray, V Cormier, P Rustin

Affiliation

¹ Department of Genetics, INSERM U 393, Hôpital des Enfants Malades, Paris, France.

PMID: 8777918
DOI: 10.1007/BF02002711

Abstract

Respiratory chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e., ATP synthesis by the respiratory chain not only occurs 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 with any mode of inheritance, due to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA).

Publication types

Review

MeSH terms

Child, Preschool
DNA, Mitochondrial / genetics*
Diagnosis, Differential
Electron Transport / genetics*
Electron Transport / physiology
Enzymes / deficiency*
Enzymes / genetics
Female
Genetic Counseling
Humans
Infant
Infant, Newborn
Male
Mitochondrial Encephalomyopathies / diagnosis
Mitochondrial Encephalomyopathies / enzymology
Mitochondrial Encephalomyopathies / genetics*
Mitochondrial Myopathies / diagnosis
Mitochondrial Myopathies / enzymology
Mitochondrial Myopathies / genetics*
Phenotype
Prenatal Diagnosis
Prognosis

Substances

DNA, Mitochondrial
Enzymes