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Carnitine Palmityl Transferase Deficiency (CPT)
Definition - one of a group of muscle diseases
that interfere with the processing of fats to draw energy from food
Cause - a genetic defect in the carnitine palmityl transferase enzyme,
which affects the breakdown of free fatty acids
Onset - childhood to early 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 - autosomal recessive, or caused by the contribution of a
defective gene from each parent
