Complex 5 mitochondrial respiratory chain deficiency


Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber\'s myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).

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The list of signs and symptoms mentioned in various sources for Complex 5 mitochondrial respiratory chain deficiency includes the 28 symptoms listed below:

  • Leber\'s myopathy
  • Cardiomyopathy
  • Leigh syndrome
  • Failure to thrive
  • Metabolic acidosis
  • Progressive psychomotor retardation
  • Reduced amniotic fluid
  • Low birth weight
  • Retarded fetal growth
  • Small placenta
  • Unusual facial features
  • Protruding forehead
  • Short philtrum
  • Small jaw
  • Low-set ears
  • Hypospadias
  • Progressive muscle weakness
  • Enlarged heart
  • Enlarged liver
  • Heart failure
  • Large mouth
  • Prominent nasal bridge
  • Impaired limb extension
  • Impaired finger extension
  • Developmental delay
  • Seizures
  • Retinitis pigmentosa
  • Neuropathy

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