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Carnitine palmityltransferase deficiency with permanent weakness.

M A Gieron1, J K Korthals

  • 1Department of Pediatrics, University of South Florida, Tampa.

Pediatric Neurology
|January 1, 1987
PubMed
Summary

Carnitine palmityltransferase deficiency, a metabolic disorder, can cause progressive muscle weakness and exercise intolerance. Early diagnosis and treatment are crucial for managing this condition and preventing long-term complications.

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Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Carnitine palmityltransferase (CPT) deficiency is a rare inherited metabolic disorder affecting fatty acid metabolism.
  • It typically presents with exercise-induced muscle pain and myoglobinuria (muscle breakdown products in urine).

Observation:

  • A 16-year-old male experienced recurrent myoglobinuria and exercise intolerance since age six.
  • He developed persistent proximal limb weakness, elevated creatine kinase, and myopathic changes on electromyography and muscle biopsy.
  • Muscle CPT activity was found to be 30% of normal levels.

Findings:

  • This case highlights that carnitine palmityltransferase deficiency can manifest as a progressive disorder.
  • The patient's persistent weakness indicates potential long-term muscle damage even between acute episodes.

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Implications:

  • Early identification of CPT deficiency is vital for timely intervention.
  • Prompt diagnosis and management may help mitigate disease progression and prevent irreversible muscle damage.