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Related Experiment Videos

Variable presentation of cytochrome c oxidase deficiency.

K Keppler1, C Cunniff

  • 1Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock.

American Journal of Diseases of Children (1960)
|November 1, 1992
PubMed
Summary

Cytochrome c oxidase deficiency presents variably, often with psychomotor regression and lactic acidosis. Early diagnosis is crucial, especially in neonates with structural anomalies, to manage this mitochondrial disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Cytochrome c oxidase deficiency is a rare mitochondrial disorder affecting cellular respiration.
  • It is a significant cause of inherited metabolic diseases in children.

Observation:

  • This study describes three pediatric patients with cytochrome c oxidase deficiency.
  • Clinical presentations included psychomotor regression, growth deficiency, and lactic acidosis.
  • Two patients showed magnetic resonance imaging evidence of Leigh disease (subacute necrotizing encephalomyelopathy).

Findings:

  • The severity of cytochrome c oxidase deficiency correlates with the lactate-pyruvate ratio.
  • One patient exhibited prenatal structural anomalies, including glabellar prominence and hypospadias.

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  • The clinical course and presentation of this deficiency are highly variable.

    • Implications:

    • Diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or Leigh disease.
    • Increased suspicion for this condition is warranted in neonates presenting with lactic acidosis and structural anomalies.
    • Understanding the variable presentation aids in timely diagnosis and management of pediatric mitochondrial disorders.