What is the role of imaging studies in the workup of carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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The following imaging studies may be indicated:

  • Roentgenograms reveal cardiac enlargement in primary carnitine deficiency and fatty acid oxidation disorders, such as LCHAD or very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, which may cause secondary carnitine deficiency.

  • In primary carnitine deficiency (as well as in fatty acid oxidation disorders, which also may present with cardiomyopathy), the echocardiogram may reveal cardiac enlargement and increased thickness of the left ventricular wall.

  • Brain imaging studies (eg, cranial ultrasound, brain MRI) may show cystic lesions in glutaric aciduria type II or basal ganglia involvement in mitochondrial disorders that may be associated with secondary carnitine deficiency.

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