of Lipid Metabolism
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
Treatment of carnitine deficiency consists of carnitine supplements and
a diet rich in medium-chain triglycerides and low in long-chain triglycerides.