Which physical 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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In primary carnitine deficiency, physical findings may vary depending on the form of presentation.

CNS: If the presentation is encephalopathy caused by hypoketotic hypoglycemia, the patient may present limp, unresponsive, and comatose after a prolonged fast. Pyramidal movements or minimal athetoid movements can persist after this type of presentation. Modest hepatomegaly also can be appreciated.

Skeletal muscle: In the myopathic presentation, patients may have mild motor delays, hypotonia, or progressive proximal weakness.

Cardiac muscle: Patients with primary carnitine deficiency may present with cardiomyopathy. Onset may occur with rapidly progressive heart failure or murmur. Cardiomegaly may be found on the physical examination, associated with the presence of a heart murmur. A gallop rhythm can be found, associated with a dilated cardiomyopathy. [9]

Respiratory symptoms are associated with heart failure.

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