Carnitine Palmityl Transferase Deficiency (CPT)
17:01 Posted by Ahmed Khalil
| Definition |
| one of a group of muscle diseases that interfere with the processing of fats for energy production |
| Cause |
| a genetic defect in the carnitine palmityl transferase 2 (CPT2) enzyme, which normally escorts breakdown products of fats from the main part of the muscle cell into the mitochondria, where they can be further metabolized for energy |
| Onset |
| infancy to adulthood |
| Symptoms |
| episodic muscle pain, stiffness and tenderness; myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) can occur; usually brought on by prolonged intense exercise, but illness, cold, stress, menstruation can also provoke symptoms |
| Progression |
| if enzyme completely lost, rapid progression leading to death in infancy; if some enzyme activity remains, little or no progression with normal strength between episodes |
| Inheritance |
| generally autosomal recessive, meaning caused by the contribution of a defective gene from each parent; some genetic defects cause symptoms even if the gene from only one parent contains the flaw (mutation) |
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