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Disorders of Lipid Metabolism
Carnitine deficiency is the most frequent cause of lipid myopathy in the neonatal period. Carnitine deficiency may be systemic or restricted to the muscles. Systemic carnitine deficiency produces hypotonia, weakness, hepatomegaly, and encephalopathy. Serum carnitine is low. Carnitine deficiency restricted to the muscle produces weakness and hypotonia. Serum carnitine is normal. Carnitine deficiency restricted to the muscle can only be diagnosed by muscle biopsy. Treatment of carnitine deficiency consists of carnitine supplements and a diet rich in medium-chain triglycerides and low in long-chain triglycerides.

 

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Would you like to see a muscle biopsy? Hart, 1978