Carnitine Palmitoyltransferase II Deficiency - Treatment

Treatment

Standard of care for treatment of CPT II deficiency commonly involves limitations on prolonged strenuous activity and the following dietary stipulations:

  • The medium-chain fatty acid triheptanoin appears to be an effective therapy for adult-onset CPT II deficiency.
  • Restriction of lipid intake
  • Avoidance of fasting situations
  • Dietary modifications including replacement of long-chain with medium-chain triglycerides supplemented with L-carnitine

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