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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
