Case 54 - Carnitine Palmitoyltransferase-II (CPT2) Deficiency

Summary

A 39-year-old man was referred because of three attacks of severe myalgia accompanied by ‘bloody urine’. There were no complaints about muscle weakness. There had been preceding exercise, but not excessively. Prior to one attack, he had suffered from a viral infection.

During childhood, at sports he had often noticed having muscle ache, once accompanied by ‘red urine’. There was no ‘second wind’ phenomenon. After three days, the muscle complaints usually disappeared. At age 20 years he had suffered a similar attack during a soccer game and again at age 37 after playing volleyball. On that occasion, CK was determined and found to be approximately 800,000 IU/L, which led to admission to hospital for hydration and monitoring of his kidney function. His CK normalized rapidly. At that time, a muscle biopsy was performed that showed no accumulation of fat or glycogen and no mitochondrial abnormalities.