Table of Contents

Carnitine Palmotoyltransferase II Deficiency (CPT II Deficiency)

What is CPT II deficiency?

Carnitine palmotoyltransferase II deficiency (CPT II deficiency) is an inherited genetic disorder of metabolism.  CPT II deficiency is characterized by an enzyme defect that prevents the breakdown of fat for use as energy in the body. CPT II deficiency presents itself in three ways: lethal neonatal, severe infantile hepatocardiomuscular and myopathic forms. Males are more likely to inherit CPT II deficiency than females.

What are the symptoms of CPT II deficiency?

The symptoms of CPT II deficiency vary in each form of the disease. These symptoms include:

  • Neonatal Form (rarest): The symptoms appear within hours or up to four days of birth and include respiratory failure, low blood sugar, seizures, enlarged liver and heart, abnormal heart rhythms, cardiac arrest, liver failure and death.
  • Infantile form: These symptoms appear at 6-24 months of age and include low levels of fat breakdown, low blood sugar, seizures, liver failure, enlarged heart and liver, inability to tolerate fevers, infection or fasting. This form of CPT II deficiency has been attributed to some cases of sudden infant death syndrome (SIDS).
  • Adult form: These symptoms appear between the ages of 6-20 years of age and include Rhabdomyolysis or muscle break down, muscle pain, weakness, kidney failure, respiratory problems, abnormal heart rhythms. Individuals with this form also have intolerance to high fat diets, cold temperature, exercise and infection.

What causes CPT II deficiency?

CPT II deficiency is an inherited recessive disorder caused by a missing or defective enzyme responsible for the breakdown of fat for use by the body for energy.

Are there treatment options for CPT II deficiency?

Most commonly CPT II deficiency is treated through dietary restrictions and activity limitation. These treatment options include:

  • Avoiding long periods without food.
  • Low fat, high carbohydrate diet.
  • Medium Chain Triglyceride oil (MCT oil) consumption. This provides medium chain fatty acids to be used for energy.
  • L-carnitine supplement. This is a natural substance that can help cells of the body make energy and eliminate waste.
  • Avoidance of strenuous activity.
  • Avoidance of prolonged exposure to cold temperatures.

Where can I find more information on CPT II deficiency?

Carnitine Palmotoyltransferase II Deficiency Articles