Which clinical history findings are characteristic of muscle carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Answer

Severe reduction in muscle carnitine levels and normal serum carnitine concentrations characterize muscle carnitine deficiency. This disorder is restricted to muscle, with no renal leak of carnitine or signs of liver involvement.

Symptoms of muscle carnitine deficiency can appear in the first years of life, but they may occur later during the second or third decade. Patients may experience proximal muscular weakness of varying degree, exercise intolerance, or myalgia.


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