Diagnosis and management of mitochondrial respiratory chain disorders

  • K. B
  • S. R
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Mitochondria are intracellular organelles that are widely distributed and have a central role in metabolic activity. Their principal function is the production of cellular energy in the form of ATP, but they also have many other metabolic functions. ATP is generated by oxidative phosphorylation. This pathway has five complexes (I-V), components of which are encoded by two genomes, nuclear and mitochondrial. Nuclear genes encode most of the polypeptides but 13 are encoded by mitochondrial DNA (mt DNA). This is exclusively maternal in origin. Due to the almost universal dependence on mitochondrial energy production, the clinical manifestations of disorders of the respiratory chain are very wide. They may involve any organ at any age. In childhood, investigation requires careful assessment before proceeding to more specific enzyme assays and molecular genetic studies. There is no curative treatment; management is supportive. © 2003 Elsevier Ltd. All rights reserved.

Author-supplied keywords

  • *Kearns Sayre syndrome
  • *Leigh disease/cn [Congenital Disorder]
  • *Leigh disease/di [Diagnosis]
  • *MELAS syndrome/cn [Congenital Disorder]
  • *MELAS syndrome/di [Diagnosis]
  • *Pearson syndrome/dt [Drug Therapy]
  • *Pearson syndrome/th [Therapy]
  • *mitochondrion
  • *respiratory chain
  • 3 hydroxybutyric acid/ec [Endogenous Compound]
  • MERRF syndrome/cn [Congenital Disorder]
  • adenosine triphosphate/ec [Endogenous Compound]
  • amino acid/ec [Endogenous Compound]
  • ammonia/ec [Endogenous Compound]
  • antioxidant
  • bicarbonate/dt [Drug Therapy]
  • biotinidase/ec [Endogenous Compound]
  • cardiolipin/ec [Endogenous Compound]
  • citric acid/ec [Endogenous Compound]
  • clinical feature
  • clinical trial
  • computer assisted tomography
  • conference paper
  • deoxyguanosine kinase/ec [Endogenous Compound]
  • dichloroacetic acid/ae [Adverse Drug Reaction]
  • electron transport
  • enzyme assay
  • fatty acid/ec [Endogenous Compound]
  • gene
  • gene mutation
  • genetic counseling
  • glucose/ec [Endogenous Compound]
  • growth hormone/ec [Endogenous Compound]
  • hereditary optic atrophy/cn [Congenital Disorder]
  • histopathology
  • human
  • hydrocortisone/ec [Endogenous Compound]
  • iron/ec [Endogenous Compound]
  • ketone body/ec [Endogenous Compound]
  • lactic acid/ec [Endogenous Compound]
  • metabolic acidosis/dt [Drug Therapy]
  • mitochondrial DNA/ec [Endogenous Compound]
  • muscle biopsy
  • neuromuscular disease
  • neuroradiology
  • nuclear magnetic resonance imaging
  • oxidative phosphorylation
  • peripheral neuropathy/si [Side Effect]
  • polypeptide/ec [Endogenous Compound]
  • protein/ec [Endogenous Compound]
  • proton transporting adenosine triphosphate synthas
  • pyruvate dehydrogenase/ec [Endogenous Compound]
  • pyruvic acid/ec [Endogenous Compound]
  • symptomatology
  • thymidine kinase/ec [Endogenous Compound]
  • thymidine phosphorylase/ec [Endogenous Compound]
  • ubiquinone/ct [Clinical Trial]
  • unindexed drug
  • urea/ec [Endogenous Compound]
  • vitamin

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  • Bhattacharya K.

  • Rahman S.

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