Complex 5 mitochondrial respiratory chain deficiency

Overview

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).

Symptoms Hide

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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