Which clinical history findings are characteristic of primary carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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One classic initial presentation of primary carnitine deficiency is hypoketotic hypoglycemic encephalopathy, accompanied by hepatomegaly, elevated liver transaminases, and hyperammonemia.

Cardiomyopathy is the other classic presentation (affecting older children); onset may occur with rapidly progressive heart failure. Cardiomyopathy can also be observed in older patients with a metabolic presentation, even if they are asymptomatic from a cardiac standpoint.

Pericardial effusion has also been observed in association with primary carnitine deficiency. [8]

Muscle weakness, the third manifestation of the disease, may accompany the heart failure or present by itself.

Carnitine deficiency may be a cause of GI dysmotility, with recurrent episodes of abdominal pain and diarrhea.

Hypochromic anemia and recurrent infections are other manifestations of the disease.

Few patients who were asymptomatic most of their lives have presented following the birth of a child.

Mild developmental delay can be the only manifestation in rare cases.

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