Definition
CPT II deficiency is a metabolic disease characterized by long-chain fatty acid oxidation defect and characterized by rhabdomyolysis and myoglobinuria.
Symptoms
- Exercise intolerance
- Rhabdomyolysis
- Myoglobinuria
- Kidney failure
Reasons
CPT2 gene mutation.
Diagnosis
Muscle biopsy, genetic testing.
Treatment
Dietary modification, MCT oil.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of rhabdomyolysis, emergency services should be consulted.
This page is for general information purposes only.