What is the role of biopsy 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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Skin biopsy can be performed to confirm diagnosis of primary carnitine deficiency by demonstrating reduced carnitine transport in fibroblasts that express the transporter. Fibroblasts may be used for fatty acid oxidation studies or enzyme assay. However, with the clinical availability of SLC22A5 sequencing, it may not be strictly necessary to perform a skin biopsy for the transport assay on cultured fibroblasts.

Muscle biopsy may be necessary to confirm the diagnosis of some conditions that may cause secondary carnitine deficiency (eg, respiratory chain defect) or to measure the carnitine concentration in muscle in cases of myopathic carnitine deficiency.

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