Carnitine Palmitoyltransferase ll Deficiency

Carnitine Palmitoyltransferase II Deficiency [CPT2]: Characterized by recurrent episodes of myalgia and rhabdomyolysis causing myoglobinuria which may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Episodes can damage the kidneys, in some cases leading to life-threatening kidney failure.

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Carrier Frequency by Ethnicity >