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Carnitine Deficiency (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
