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Carenza di carnitina
(CD)
Definition — one of a
group of muscle diseases that interfere with the
processing of fats to draw energy from food
Cause — either a defect in a gene for a
protein that brings carnitine into the cell; or a
deficiency of carnitine secondary to other metabolic
diseases
Onset — childhood
Symptoms — cardiac disease, muscle weakness in
the hips, shoulders, and upper arms and legs; neck and
jaw muscles may also be weak
Progression — slowly progressive
Inheritance — autosomal recessive, or caused
by the contribution of a defective gene from each
parent
